Slow Acetylator Due To N-Acetyltransferase Enzyme Variant

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Results for "Slow Acetylator Due To N-Acetyltransferase Enzyme Variant": 962 gene sets

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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.
acetylator Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term acetylator in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations 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.
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.
Ribosomal S6 modification enzyme RimK/Lysine biosynthesis enzyme LysX Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribosomal S6 modification enzyme RimK/Lysine biosynthesis enzyme LysX protein domain from the InterPro Predicted Protein Domain Annotations 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.
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.
Myasthenic syndrome, slow-channel congenital Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, slow-channel congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
hs4 enhancer complex (slow migrating complex) Gene Set From CORUM Protein Complexes proteins in the hs4 enhancer complex (slow migrating complex) protein complex from the CORUM Protein Complexes dataset.
Myasthenic syndrome, congenital, postsynaptic slow-channel Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Myasthenic syndrome, congenital, postsynaptic slow-channel from the curated CTD Gene-Disease Associations dataset.
slow coronary flow Gene Set From GAD Gene-Disease Associations genes associated with the disease slow coronary flow in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
slow Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term slow in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
slow endocytic recycling Gene Set From GO Biological Process Annotations 2015 genes participating in the slow endocytic recycling biological process from the curated GO Biological Process Annotations 2015 dataset.
transition between fast and slow fiber Gene Set From GO Biological Process Annotations 2015 genes participating in the transition between fast and slow fiber biological process from the curated GO Biological Process Annotations 2015 dataset.
transition between slow and fast fiber Gene Set From GO Biological Process Annotations 2015 genes participating in the transition between slow and fast fiber biological process from the curated GO Biological Process Annotations 2015 dataset.
slow-twitch skeletal muscle fiber contraction Gene Set From GO Biological Process Annotations 2015 genes participating in the slow-twitch skeletal muscle fiber contraction biological process from the curated GO Biological Process Annotations 2015 dataset.
eeg with abnormally slow frequencies Gene Set From HPO Gene-Disease Associations genes associated with the eeg with abnormally slow frequencies phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
slow saccadic eye movements Gene Set From HPO Gene-Disease Associations genes associated with the slow saccadic eye movements phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
slow-growing hair Gene Set From HPO Gene-Disease Associations genes associated with the slow-growing hair phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
eeg with generalized slow activity Gene Set From HPO Gene-Disease Associations genes associated with the eeg with generalized slow activity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
slow decrease in visual acuity Gene Set From HPO Gene-Disease Associations genes associated with the slow decrease in visual acuity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
slow progression Gene Set From HPO Gene-Disease Associations genes associated with the slow progression phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
slow postnatal weight gain Gene Set From MPO Gene-Phenotype Associations gene mutations causing the slow postnatal weight gain phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
slow aging Gene Set From MPO Gene-Phenotype Associations gene mutations causing the slow aging phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
slow extinction of fear memory Gene Set From MPO Gene-Phenotype Associations gene mutations causing the slow extinction of fear memory phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
slow wallerian degeneration Gene Set From MPO Gene-Phenotype Associations gene mutations causing the slow wallerian degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
myasthenic syndrome, slow-channel congenital Gene Set From OMIM Gene-Disease Associations genes associated with the myasthenic syndrome, slow-channel congenital phenotype from the curated OMIM Gene-Disease Associations dataset.
{aids, slow progression to} Gene Set From OMIM Gene-Disease Associations genes associated with the {aids, slow progression to} phenotype from the curated OMIM Gene-Disease Associations dataset.
[acetylation, slow] Gene Set From OMIM Gene-Disease Associations genes associated with the [acetylation, slow] phenotype from the curated OMIM Gene-Disease Associations dataset.
slow muscle Gene Set From TISSUES Curated Tissue Protein Expression Evidence Scores proteins highly expressed in the tissue slow muscle from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.
slow twitch muscle fiber Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue slow twitch muscle fiber in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
slow muscle Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue slow muscle in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
Muscle-slow muscle cell Gene Set From Tabula Sapiens Gene-Cell Associations genes with high or low expression in Muscle-slow muscle cell relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset.
Slow Channel Syndrome Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Slow Channel Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Continuous Spike And Waves During Slow Sleep Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Continuous Spike And Waves During Slow Sleep in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Eeg With Multifocal Slow Activity Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Eeg With Multifocal Slow Activity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Slow Progression Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Slow Progression in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Slow-Growing Hair Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Slow-Growing Hair in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Slow Decrease In Visual Acuity Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Slow Decrease In Visual Acuity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Eeg With Continuous Slow Activity Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Eeg With Continuous Slow Activity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Slow-Flow Phenomenon Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Slow-Flow Phenomenon in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Eeg With Generalized Slow Activity Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Eeg With Generalized Slow Activity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Eeg With Abnormally Slow Frequencies Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Eeg With Abnormally Slow Frequencies in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Eeg With Focal Sharp Slow Waves Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Eeg With Focal Sharp Slow Waves in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Slow Pupillary Light Response Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Slow Pupillary Light Response in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Slow-Growing Nails Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Slow-Growing Nails in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
regulation of slow-twitch skeletal muscle fiber contraction Gene Set From GO Biological Process Annotations 2023 genes participating in the regulation of slow-twitch skeletal muscle fiber contraction biological process from the curated GO Biological Process Annotations 2023 dataset.
transition between fast and slow fiber Gene Set From GO Biological Process Annotations 2023 genes participating in the transition between fast and slow fiber biological process from the curated GO Biological Process Annotations 2023 dataset.
slow endocytic recycling Gene Set From GO Biological Process Annotations 2023 genes participating in the slow endocytic recycling biological process from the curated GO Biological Process Annotations 2023 dataset.
slow-twitch skeletal muscle fiber contraction Gene Set From GO Biological Process Annotations 2023 genes participating in the slow-twitch skeletal muscle fiber contraction biological process from the curated GO Biological Process Annotations 2023 dataset.
slow axonal transport Gene Set From GO Biological Process Annotations 2023 genes participating in the slow axonal transport biological process from the curated GO Biological Process Annotations 2023 dataset.
slow postnatal weight gain Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the slow postnatal weight gain phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
slow Wallerian degeneration Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the slow Wallerian degeneration phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
slow aging Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the slow aging phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
slow extinction of fear memory Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the slow extinction of fear memory phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
slow movement Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the slow movement phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
decreased slow-wave sleep duration Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased slow-wave sleep duration phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
abnormal slow-wave sleep pattern Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal slow-wave sleep pattern phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
regulation of slow-twitch skeletal muscle fiber contraction Gene Set From GO Biological Process Annotations 2025 genes participating in the regulation of slow-twitch skeletal muscle fiber contraction biological process from the curated GO Biological Process Annotations 2025 dataset.
transition between fast and slow fiber Gene Set From GO Biological Process Annotations 2025 genes participating in the transition between fast and slow fiber biological process from the curated GO Biological Process Annotations 2025 dataset.
slow endocytic recycling Gene Set From GO Biological Process Annotations 2025 genes participating in the slow endocytic recycling biological process from the curated GO Biological Process Annotations 2025 dataset.
slow-twitch skeletal muscle fiber contraction Gene Set From GO Biological Process Annotations 2025 genes participating in the slow-twitch skeletal muscle fiber contraction biological process from the curated GO Biological Process Annotations 2025 dataset.
Slow muscle Gene Set From TISSUES Curated Tissue Protein Expression Evidence Scores 2025 proteins highly expressed in the tissue Slow muscle from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
Slow muscle Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Slow muscle in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
Slow twitch muscle fiber Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Slow twitch muscle fiber in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
Slow-Channel Congenital Myasthenia Syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Slow-Channel Congenital Myasthenia Syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Factor B fast/slow polymorphism Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Factor B fast/slow polymorphism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Continuous spike and waves during slow sleep Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Continuous spike and waves during slow sleep phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
joint destruction in rheumatoid arthritis (rapid vs slow) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the joint destruction in rheumatoid arthritis (rapid vs slow) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Immunodeficiency 18, severe combined immunodeficiency variant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 18, severe combined immunodeficiency variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Methylmalonic aciduria, cblD type, variant 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Methylmalonic aciduria, cblD type, variant 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Porphyria, acute intermittent, nonerythroid variant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Porphyria, acute intermittent, nonerythroid variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gm2-gangliosidosis, variant b1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gm2-gangliosidosis, variant b1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Homocystinuria, cblD type, variant 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Homocystinuria, cblD type, variant 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Epidermolysis bullosa, junctional, localisata variant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Epidermolysis bullosa, junctional, localisata variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rett syndrome, congenital variant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Rett syndrome, congenital variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Tay-Sachs disease, B1 variant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tay-Sachs disease, B1 variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Xeroderma pigmentosum, variant type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Xeroderma pigmentosum, variant type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ataxia-telangiectasia variant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ataxia-telangiectasia variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Heterotopia, periventricular, Ehlers-Danlos variant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Heterotopia, periventricular, Ehlers-Danlos variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Tay-Sachs disease, variant AB Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tay-Sachs disease, variant AB phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Oligosaccharyltransferase complex (Stt3A variant) Gene Set From CORUM Protein Complexes proteins in the Oligosaccharyltransferase complex (Stt3A variant) protein complex from the CORUM Protein Complexes dataset.
Oligosaccharyltransferase complex (Stt3B variant) Gene Set From CORUM Protein Complexes proteins in the Oligosaccharyltransferase complex (Stt3B variant) protein complex from the CORUM Protein Complexes dataset.
CD147-gamma-secretase complex (APH-1a, PS-1, PEN-2, NCT variant) Gene Set From CORUM Protein Complexes proteins in the CD147-gamma-secretase complex (APH-1a, PS-1, PEN-2, NCT variant) protein complex from the CORUM Protein Complexes dataset.
Gamma-secretase complex (APH1A, PSEN1, PSENEN, NCSTN variant) Gene Set From CORUM Protein Complexes proteins in the Gamma-secretase complex (APH1A, PSEN1, PSENEN, NCSTN variant) protein complex from the CORUM Protein Complexes dataset.
Tay-Sachs Disease, AB Variant Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Tay-Sachs Disease, AB Variant from the curated CTD Gene-Disease Associations dataset.
Prinzmetal's variant angina Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Prinzmetal's variant angina from the curated CTD Gene-Disease Associations dataset.
Vohwinkel Syndrome, Variant Form Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Vohwinkel Syndrome, Variant Form from the curated CTD Gene-Disease Associations dataset.
Heterotopia, Periventricular, Ehlers-Danlos Variant Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Heterotopia, Periventricular, Ehlers-Danlos Variant from the curated CTD Gene-Disease Associations dataset.
Carney Complex Variant Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Carney Complex Variant from the curated CTD Gene-Disease Associations dataset.
Xeroderma pigmentosum, variant type Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Xeroderma pigmentosum, variant type from the curated CTD Gene-Disease Associations dataset.
RETT SYNDROME, CONGENITAL VARIANT Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease RETT SYNDROME, CONGENITAL VARIANT from the curated CTD Gene-Disease Associations dataset.
eosinophilic variant of chromophobe renal cell carcinoma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease eosinophilic variant of chromophobe renal cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
cough variant asthma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cough variant asthma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
variant creutzfeldt-jakob disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease variant creutzfeldt-jakob disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
tall cell variant papillary carcinoma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease tall cell variant papillary carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
angina pectoris, variant Gene Set From GAD Gene-Disease Associations genes associated with the disease angina pectoris, variant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
angina pectoris, variant; chest pain; coronary disease; coronary heart disease; myocardial infarction; syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease angina pectoris, variant; chest pain; coronary disease; coronary heart disease; myocardial infarction; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
cockayne syndrome or the desanctis-cacchione variant of xeroderma pigmentosum Gene Set From GAD Gene-Disease Associations genes associated with the disease cockayne syndrome or the desanctis-cacchione variant of xeroderma pigmentosum in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
variant late infantile neuronal ceroid lipofuscinosis. Gene Set From GAD Gene-Disease Associations genes associated with the disease variant late infantile neuronal ceroid lipofuscinosis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
strudwick variant of spondyloepimetaphyseal dysplasia Gene Set From GAD Gene-Disease Associations genes associated with the disease strudwick variant of spondyloepimetaphyseal dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
variant Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term variant in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
variant MCH Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the variant MCH ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
Creutzfeldt-Jakob disease (variant) Gene Set From GWAS Catalog SNP-Phenotype Associations genes associated with the Creutzfeldt-Jakob disease (variant) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
Angina Pectoris, Variant Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Angina Pectoris, Variant phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
Variant SH3 domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Variant SH3 domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ubiquitin E2 variant, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquitin E2 variant, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
lymphoma/leukemia, b-cell, variant Gene Set From OMIM Gene-Disease Associations genes associated with the lymphoma/leukemia, b-cell, variant phenotype from the curated OMIM Gene-Disease Associations dataset.
homocystinuria, cbld type, variant 1 Gene Set From OMIM Gene-Disease Associations genes associated with the homocystinuria, cbld type, variant 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
rett syndrome, congenital variant Gene Set From OMIM Gene-Disease Associations genes associated with the rett syndrome, congenital variant phenotype from the curated OMIM Gene-Disease Associations dataset.
maple syrup urine disease, mild variant Gene Set From OMIM Gene-Disease Associations genes associated with the maple syrup urine disease, mild variant phenotype from the curated OMIM Gene-Disease Associations dataset.
diastrophic dysplasia, broad bone-platyspondylic variant Gene Set From OMIM Gene-Disease Associations genes associated with the diastrophic dysplasia, broad bone-platyspondylic variant phenotype from the curated OMIM Gene-Disease Associations dataset.
gm2-gangliosidosis, ab variant Gene Set From OMIM Gene-Disease Associations genes associated with the gm2-gangliosidosis, ab variant phenotype from the curated OMIM Gene-Disease Associations dataset.
{creutzfeldt-jakob disease, variant, resistance to} Gene Set From OMIM Gene-Disease Associations genes associated with the {creutzfeldt-jakob disease, variant, resistance to} phenotype from the curated OMIM Gene-Disease Associations dataset.
xeroderma pigmentosum, variant type Gene Set From OMIM Gene-Disease Associations genes associated with the xeroderma pigmentosum, variant type phenotype from the curated OMIM Gene-Disease Associations dataset.
rett syndrome, preserved speech variant Gene Set From OMIM Gene-Disease Associations genes associated with the rett syndrome, preserved speech variant phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated OMIM Gene-Disease Associations dataset.
ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant Gene Set From OMIM Gene-Disease Associations genes associated with the ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant phenotype from the curated OMIM Gene-Disease Associations dataset.
porphyria, acute intermittent, nonerythroid variant Gene Set From OMIM Gene-Disease Associations genes associated with the porphyria, acute intermittent, nonerythroid variant phenotype from the curated OMIM Gene-Disease Associations dataset.
methylmalonic aciduria, cbld type, variant 2 Gene Set From OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria, cbld type, variant 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
immunodeficiency 18, scid variant Gene Set From OMIM Gene-Disease Associations genes associated with the immunodeficiency 18, scid variant phenotype from the curated OMIM Gene-Disease Associations dataset.
heterotopia, periventricular, ed variant Gene Set From OMIM Gene-Disease Associations genes associated with the heterotopia, periventricular, ed variant phenotype from the curated OMIM Gene-Disease Associations dataset.
ebd, localisata variant Gene Set From OMIM Gene-Disease Associations genes associated with the ebd, localisata variant phenotype from the curated OMIM Gene-Disease Associations dataset.
fabry disease, cardiac variant Gene Set From OMIM Gene-Disease Associations genes associated with the fabry disease, cardiac variant phenotype from the curated OMIM Gene-Disease Associations dataset.
carney complex variant Gene Set From OMIM Gene-Disease Associations genes associated with the carney complex variant phenotype from the curated OMIM Gene-Disease Associations dataset.
New Variant Creutzfeldt-Jakob Disease Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease New Variant Creutzfeldt-Jakob Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Prinzmetal'S Variant Angina Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Prinzmetal'S Variant Angina in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Akinetic-Rigid Variant Of Huntington Disease Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Akinetic-Rigid Variant Of Huntington Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Behavioral Variant Of Frontotemporal Dementia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Behavioral Variant Of Frontotemporal Dementia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cutaneous Fibrous Histiocytoma, Epithelioid Variant Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cutaneous Fibrous Histiocytoma, Epithelioid Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Follicular Variant Thyroid Gland Papillary Carcinoma Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Follicular Variant Thyroid Gland Papillary Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Lewy Body Variant Of Alzheimer Disease Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Lewy Body Variant Of Alzheimer Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Metachromatic Leukodystrophy Variant Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Metachromatic Leukodystrophy Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hairy Cell Leukemia Variant Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hairy Cell Leukemia Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Multiple System Atrophy, Cerebellar Variant Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Multiple System Atrophy, Cerebellar Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Blastoid Variant Mantle Cell Lymphoma Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Blastoid Variant Mantle Cell Lymphoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Pleomorphic Variant Mantle Cell Lymphoma Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Pleomorphic Variant Mantle Cell Lymphoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Dandy Walker Variant Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Dandy Walker Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Estren-Dameshek Variant Of Fanconi Anemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Estren-Dameshek Variant Of Fanconi Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Estren-Dameshek Variant Of Fanconi Pancytopenia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Estren-Dameshek Variant Of Fanconi Pancytopenia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Heterotopia, Periventricular, Ehlers-Danlos Variant Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Heterotopia, Periventricular, Ehlers-Danlos Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hexosaminidase Alpha-Subunit Deficiency (Variant B) Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hexosaminidase Alpha-Subunit Deficiency (Variant B) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cough Variant Asthma Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cough Variant Asthma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Vohwinkel Syndrome, Variant Form Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Vohwinkel Syndrome, Variant Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Rett Syndrome, Zappella Variant Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Rett Syndrome, Zappella Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Tangier Disease, Variant Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Tangier Disease, Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Apoe2 Variant Phenotype Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Apoe2 Variant Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Apoe4 Variant Phenotype Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Apoe4 Variant Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Apoe5 Variant Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Apoe5 Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Bche, H Variant Phenotype Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Bche, H Variant Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Bche, J Variant Phenotype Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Bche, J Variant Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Cpt1A Arctic Variant Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cpt1A Arctic Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Creutzfeldt-Jakob Disease, Heidenhain Variant Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Creutzfeldt-Jakob Disease, Heidenhain Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Jk-Null Variant, Finnish Type Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Jk-Null Variant, Finnish Type in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Transferrin Variant Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Transferrin Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
FTO obesity variant mechanism Gene Set From WikiPathways Pathways 2024 proteins participating in the FTO obesity variant mechanism pathway from the WikiPathways Pathways 2024 dataset.
SARS CoV 2 B 1 1 7 variant antagonises innate immune activation Gene Set From WikiPathways Pathways 2024 proteins participating in the SARS CoV 2 B 1 1 7 variant antagonises innate immune activation pathway from the WikiPathways Pathways 2024 dataset.
Defective F9 variant does not activate FX Gene Set From Reactome Pathways 2024 proteins participating in the Defective F9 variant does not activate FX pathway from the Reactome Pathways 2024 dataset.
Defective VWF cleavage by ADAMTS13 variant Gene Set From Reactome Pathways 2024 proteins participating in the Defective VWF cleavage by ADAMTS13 variant pathway from the Reactome Pathways 2024 dataset.
Defective binding of VWF variant to GPIb:IX:V Gene Set From Reactome Pathways 2024 proteins participating in the Defective binding of VWF variant to GPIb:IX:V pathway from the Reactome Pathways 2024 dataset.
Defective cofactor function of FVIIIa variant Gene Set From Reactome Pathways 2024 proteins participating in the Defective cofactor function of FVIIIa variant pathway from the Reactome Pathways 2024 dataset.
Enhanced binding of GP1BA variant to VWF multimer:collagen Gene Set From Reactome Pathways 2024 proteins participating in the Enhanced binding of GP1BA variant to VWF multimer:collagen pathway from the Reactome Pathways 2024 dataset.
Enhanced cleavage of VWF variant by ADAMTS13 Gene Set From Reactome Pathways 2024 proteins participating in the Enhanced cleavage of VWF variant by ADAMTS13 pathway from the Reactome Pathways 2024 dataset.
H139Hfs13* PPM1K causes a mild variant of MSUD Gene Set From Reactome Pathways 2024 proteins participating in the H139Hfs13* PPM1K causes a mild variant of MSUD pathway from the Reactome Pathways 2024 dataset.
IkBA variant leads to EDA-ID Gene Set From Reactome Pathways 2024 proteins participating in the IkBA variant leads to EDA-ID pathway from the Reactome Pathways 2024 dataset.
Variant SLC6A14 may confer susceptibility towards obesity Gene Set From Reactome Pathways 2024 proteins participating in the Variant SLC6A14 may confer susceptibility towards obesity pathway from the Reactome Pathways 2024 dataset.
Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)_5619101 Gene Set From Reactome Pathways 2024 proteins participating in the Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)_5619101 pathway from the Reactome Pathways 2024 dataset.
Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)_5660686 Gene Set From Reactome Pathways 2024 proteins participating in the Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)_5660686 pathway from the Reactome Pathways 2024 dataset.
GM2 gangliosidosis, AB variant Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease GM2 gangliosidosis, AB variant from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Ohdo syndrome, SBBYS variant Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Ohdo syndrome, SBBYS variant from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Variant Creutzfeldt-Jakob disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Variant Creutzfeldt-Jakob disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Cough variant asthma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cough variant asthma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Xeroderma pigmentosum variant type Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Xeroderma pigmentosum variant type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neuronal ceroid lipofuscinosis 8 northern epilepsy variant in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
GM2 gangliosidosis, AB variant Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease GM2 gangliosidosis, AB variant in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Eosinophilic variant of chromophobe renal cell carcinoma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Eosinophilic variant of chromophobe renal cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Ohdo syndrome, SBBYS variant Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ohdo syndrome, SBBYS variant in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Tall cell variant papillary carcinoma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Tall cell variant papillary carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Neuronal ceroid lipofuscinosis 8 northern epilepsy variant phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ataxia - telangiectasia variant Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Ataxia - telangiectasia variant phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Xeroderma pigmentosum variant Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Xeroderma pigmentosum variant phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Transferrin variant Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Transferrin variant phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Reclassified - variant of unknown significance Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Reclassified - variant of unknown significance phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Variant of unknown significance Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Variant of unknown significance phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Factor VII Marburg I Variant Thrombophilia Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Factor VII Marburg I Variant Thrombophilia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Behavioral variant of frontotemporal dementia Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Behavioral variant of frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Venous thromboembolism adjusted for sickle cell variant rs77121243-T Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Venous thromboembolism adjusted for sickle cell variant rs77121243-T phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Severe malaria (adjusted for sickle cell variant rs334) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe malaria (adjusted for sickle cell variant rs334) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Creutzfeldt-Jakob disease (variant) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Creutzfeldt-Jakob disease (variant) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
VARIANT MCH Gene Set From DGIdb Drug Targets 2026 interacting proteins for the VARIANT MCH drug from theDGIdb Drug Targets 2026 dataset.
Bifunctional peroxisomal enzyme deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bifunctional peroxisomal enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Impdh2 enzyme activity, variation in Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Impdh2 enzyme activity, variation in phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Angiotensin i-converting enzyme, benign serum increase Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Angiotensin i-converting enzyme, benign serum increase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
ubiquitin conjugating enzyme complex Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the ubiquitin conjugating enzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
sumo activating enzyme complex Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the sumo activating enzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
tricarboxylic acid cycle enzyme complex Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the tricarboxylic acid cycle enzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
apolipoprotein b mrna editing enzyme complex Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the apolipoprotein b mrna editing enzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
mitochondrial tricarboxylic acid cycle enzyme complex Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the mitochondrial tricarboxylic acid cycle enzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
ubiquitin conjugating enzyme complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the ubiquitin conjugating enzyme complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
sumo activating enzyme complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the sumo activating enzyme complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
tricarboxylic acid cycle enzyme complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the tricarboxylic acid cycle enzyme complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
udp-n-acetylglucosamine-lysosomal-enzyme n-acetylglucosaminephosphotransferase complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the udp-n-acetylglucosamine-lysosomal-enzyme n-acetylglucosaminephosphotransferase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
apolipoprotein b mrna editing enzyme complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the apolipoprotein b mrna editing enzyme complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
mitochondrial tricarboxylic acid cycle enzyme complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the mitochondrial tricarboxylic acid cycle enzyme complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
Raf1-PP2A core enzyme complex (Ppp2r1a, Ppp2ca), untreated Gene Set From CORUM Protein Complexes proteins in the Raf1-PP2A core enzyme complex (Ppp2r1a, Ppp2ca), untreated protein complex from the CORUM Protein Complexes dataset.
Ksr1-PP2A core enzyme complex (Ppp2r1a, Ppp2ca), untreated Gene Set From CORUM Protein Complexes proteins in the Ksr1-PP2A core enzyme complex (Ppp2r1a, Ppp2ca), untreated protein complex from the CORUM Protein Complexes dataset.
Enzyme Inhibitors Gene Set From CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Enzyme Inhibitors from the curated CTD Gene-Chemical Interactions dataset.
Angiotensin-Converting Enzyme Inhibitors Gene Set From CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Angiotensin-Converting Enzyme Inhibitors from the curated CTD Gene-Chemical Interactions dataset.
Angiotensin-Converting Enzyme Inhibitors Gene Set From dbGAP Gene-Trait Associations genes associated with the trait Angiotensin-Converting Enzyme Inhibitors in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
enzyme activity Gene Set From GAD Gene-Disease Associations genes associated with the disease enzyme activity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
angiotensin-converting enzyme inhibitor-related cough Gene Set From GAD Gene-Disease Associations genes associated with the disease angiotensin-converting enzyme inhibitor-related cough in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
angiotensin-converting enzyme gene polymorphism Gene Set From GAD Gene-Disease Associations genes associated with the disease angiotensin-converting enzyme gene polymorphism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
cough, angiotensin-converting enzyme; inhibitor-related Gene Set From GAD Gene-Disease Associations genes associated with the disease cough, angiotensin-converting enzyme; inhibitor-related in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
cardiovascular disease and antioxidant enzyme defense Gene Set From GAD Gene-Disease Associations genes associated with the disease cardiovascular disease and antioxidant enzyme defense in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
undetectable glucose-6-phosphate dehydrogenase enzyme activity Gene Set From GAD Gene-Disease Associations genes associated with the disease undetectable glucose-6-phosphate dehydrogenase enzyme activity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
antiproteinuric effect of angiotensin i-converting enzyme inhibitors Gene Set From GAD Gene-Disease Associations genes associated with the disease antiproteinuric effect of angiotensin i-converting enzyme inhibitors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
angiotensin-converting enzyme genotype Gene Set From GAD Gene-Disease Associations genes associated with the disease angiotensin-converting enzyme genotype in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
angiotensin i converting enzyme and cytokine gene polymorphisms Gene Set From GAD Gene-Disease Associations genes associated with the disease angiotensin i converting enzyme and cytokine gene polymorphisms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
angiotensin-converting enzyme activity Gene Set From GAD Gene-Disease Associations genes associated with the disease angiotensin-converting enzyme activity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
angiotensin-converting enzyme inhibitors Gene Set From GAD Gene-Disease Associations genes associated with the disease angiotensin-converting enzyme inhibitors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
dramatically increased serum enzyme levels Gene Set From GAD Gene-Disease Associations genes associated with the disease dramatically increased serum enzyme levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
sulfotransferases enzyme activity Gene Set From GAD Gene-Disease Associations genes associated with the disease sulfotransferases enzyme activity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
enzyme Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term enzyme in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
enzyme-directed rrna 2'-o-methylation Gene Set From GO Biological Process Annotations 2015 genes participating in the enzyme-directed rrna 2'-o-methylation biological process from the curated GO Biological Process Annotations 2015 dataset.
recruitment of mrna capping enzyme to rna polymerase ii holoenzyme complex Gene Set From GO Biological Process Annotations 2015 genes participating in the recruitment of mrna capping enzyme to rna polymerase ii holoenzyme complex biological process from the curated GO Biological Process Annotations 2015 dataset.
enzyme active site formation via l-cysteine sulfinic acid Gene Set From GO Biological Process Annotations 2015 genes participating in the enzyme active site formation via l-cysteine sulfinic acid biological process from the curated GO Biological Process Annotations 2015 dataset.
enzyme active site formation via l-cysteine persulfide Gene Set From GO Biological Process Annotations 2015 genes participating in the enzyme active site formation via l-cysteine persulfide biological process from the curated GO Biological Process Annotations 2015 dataset.
enzyme active site formation Gene Set From GO Biological Process Annotations 2015 genes participating in the enzyme active site formation biological process from the curated GO Biological Process Annotations 2015 dataset.
enzyme linked receptor protein signaling pathway Gene Set From GO Biological Process Annotations 2015 genes participating in the enzyme linked receptor protein signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset.
ubiquitin conjugating enzyme complex Gene Set From GO Cellular Component Annotations 2015 proteins localized to the ubiquitin conjugating enzyme complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.
sumo activating enzyme complex Gene Set From GO Cellular Component Annotations 2015 proteins localized to the sumo activating enzyme complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.
tricarboxylic acid cycle enzyme complex Gene Set From GO Cellular Component Annotations 2015 proteins localized to the tricarboxylic acid cycle enzyme complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.
apolipoprotein b mrna editing enzyme complex Gene Set From GO Cellular Component Annotations 2015 proteins localized to the apolipoprotein b mrna editing enzyme complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.
mitochondrial tricarboxylic acid cycle enzyme complex Gene Set From GO Cellular Component Annotations 2015 proteins localized to the mitochondrial tricarboxylic acid cycle enzyme complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.
fat10 activating enzyme activity Gene Set From GO Molecular Function Annotations 2015 genes performing the fat10 activating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
radical sam enzyme activity Gene Set From GO Molecular Function Annotations 2015 genes performing the radical sam enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
small protein activating enzyme binding Gene Set From GO Molecular Function Annotations 2015 genes performing the small protein activating enzyme binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
sumo activating enzyme activity Gene Set From GO Molecular Function Annotations 2015 genes performing the sumo activating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
atg8 activating enzyme activity Gene Set From GO Molecular Function Annotations 2015 genes performing the atg8 activating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
enzyme activator activity Gene Set From GO Molecular Function Annotations 2015 genes performing the enzyme activator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
enzyme binding Gene Set From GO Molecular Function Annotations 2015 genes performing the enzyme binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
ubiquitin-like protein conjugating enzyme activity Gene Set From GO Molecular Function Annotations 2015 genes performing the ubiquitin-like protein conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
sumo conjugating enzyme activity Gene Set From GO Molecular Function Annotations 2015 genes performing the sumo conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
ubiquitin conjugating enzyme binding Gene Set From GO Molecular Function Annotations 2015 genes performing the ubiquitin conjugating enzyme binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
urm1 activating enzyme activity Gene Set From GO Molecular Function Annotations 2015 genes performing the urm1 activating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
rna polymerase core enzyme binding Gene Set From GO Molecular Function Annotations 2015 genes performing the rna polymerase core enzyme binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
ufm1 activating enzyme activity Gene Set From GO Molecular Function Annotations 2015 genes performing the ufm1 activating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
enzyme regulator activity Gene Set From GO Molecular Function Annotations 2015 genes performing the enzyme regulator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
ubiquitin conjugating enzyme activity Gene Set From GO Molecular Function Annotations 2015 genes performing the ubiquitin conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
udp-n-acetylglucosamine-lysosomal-enzyme n-acetylglucosaminephosphotransferase activity Gene Set From GO Molecular Function Annotations 2015 genes performing the udp-n-acetylglucosamine-lysosomal-enzyme n-acetylglucosaminephosphotransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
atg12 activating enzyme activity Gene Set From GO Molecular Function Annotations 2015 genes performing the atg12 activating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
ubiquitin activating enzyme activity Gene Set From GO Molecular Function Annotations 2015 genes performing the ubiquitin activating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
ubiquitin-like protein conjugating enzyme binding Gene Set From GO Molecular Function Annotations 2015 genes performing the ubiquitin-like protein conjugating enzyme binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
small protein activating enzyme activity Gene Set From GO Molecular Function Annotations 2015 genes performing the small protein activating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
malic enzyme activity Gene Set From GO Molecular Function Annotations 2015 genes performing the malic enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
isg15 activating enzyme activity Gene Set From GO Molecular Function Annotations 2015 genes performing the isg15 activating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
rna lariat debranching enzyme activity Gene Set From GO Molecular Function Annotations 2015 genes performing the rna lariat debranching enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
1,4-alpha-glucan branching enzyme activity Gene Set From GO Molecular Function Annotations 2015 genes performing the 1,4-alpha-glucan branching enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
glycogen debranching enzyme activity Gene Set From GO Molecular Function Annotations 2015 genes performing the glycogen debranching enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
enzyme inhibitor activity Gene Set From GO Molecular Function Annotations 2015 genes performing the enzyme inhibitor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
nedd8 activating enzyme activity Gene Set From GO Molecular Function Annotations 2015 genes performing the nedd8 activating enzyme activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.
Liver enzyme levels (gamma-glutamyl transferase) Gene Set From GWAS Catalog SNP-Phenotype Associations genes associated with the Liver enzyme levels (gamma-glutamyl transferase) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
Liver enzyme levels Gene Set From GWAS Catalog SNP-Phenotype Associations genes associated with the Liver enzyme levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
Angiotensin-converting enzyme activity Gene Set From GWAS Catalog SNP-Phenotype Associations genes associated with the Angiotensin-converting enzyme activity phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
Liver enzyme levels (alanine transaminase) Gene Set From GWAS Catalog SNP-Phenotype Associations genes associated with the Liver enzyme levels (alanine transaminase) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
Liver enzyme levels (aspartate transaminase) Gene Set From GWAS Catalog SNP-Phenotype Associations genes associated with the Liver enzyme levels (aspartate transaminase) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
Liver enzyme levels (alkaline phosphatase) Gene Set From GWAS Catalog SNP-Phenotype Associations genes associated with the Liver enzyme levels (alkaline phosphatase) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
mitochondrial malic enzyme reduced Gene Set From HPO Gene-Disease Associations genes associated with the mitochondrial malic enzyme reduced phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
abnormality of circulating enzyme level Gene Set From HPO Gene-Disease Associations genes associated with the abnormality of circulating enzyme level phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
abnormal enzyme/coenzyme activity Gene Set From HPO Gene-Disease Associations genes associated with the abnormal enzyme/coenzyme activity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Thiamine pyrophosphate enzyme, C-terminal TPP-binding Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Thiamine pyrophosphate enzyme, C-terminal TPP-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ubiquitin-like 1 activating enzyme, catalytic cysteine domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquitin-like 1 activating enzyme, catalytic cysteine domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
AMP-binding enzyme C-terminal domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the AMP-binding enzyme C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
MiaB-like tRNA modifying enzyme, archaeal-type Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the MiaB-like tRNA modifying enzyme, archaeal-type protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Scavenger mRNA decapping enzyme DcpS/DCS2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Scavenger mRNA decapping enzyme DcpS/DCS2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Thiolase, acyl-enzyme intermediate active site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Thiolase, acyl-enzyme intermediate active site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ubiquitin-activating enzyme repeat Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquitin-activating enzyme repeat protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Malic enzyme, N-terminal domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Malic enzyme, N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ubiquitin/SUMO-activating enzyme ubiquitin-like domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquitin/SUMO-activating enzyme ubiquitin-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Peptidase A1, beta-site APP cleaving enzyme 1, BACE 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Peptidase A1, beta-site APP cleaving enzyme 1, BACE 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Atrial natriuretic peptide-converting enzyme corin Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Atrial natriuretic peptide-converting enzyme corin protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ubiquitin-activating enzyme Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquitin-activating enzyme protein domain from the InterPro Predicted Protein Domain Annotations dataset.
SUMO-conjugating enzyme Ubc9 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the SUMO-conjugating enzyme Ubc9 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
mRNA capping enzyme, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the mRNA capping enzyme, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
mRNA capping enzyme, bifunctional Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the mRNA capping enzyme, bifunctional protein domain from the InterPro Predicted Protein Domain Annotations dataset.
1,4-alpha-glucan-branching enzyme, GlgB Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the 1,4-alpha-glucan-branching enzyme, GlgB protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Malic enzyme, NAD-binding Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Malic enzyme, NAD-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ubiquitin-activating enzyme e1, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquitin-activating enzyme e1, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Thiamine pyrophosphate enzyme, central domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Thiamine pyrophosphate enzyme, central domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Glycogen debranching enzyme Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Glycogen debranching enzyme protein domain from the InterPro Predicted Protein Domain Annotations dataset.
TPP-binding enzyme, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the TPP-binding enzyme, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
tRNA-i(6)A37 modification enzyme MiaB Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the tRNA-i(6)A37 modification enzyme MiaB protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Glycogen debranching enzyme, metazoa Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Glycogen debranching enzyme, metazoa protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Endothelin-converting enzyme 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Endothelin-converting enzyme 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Endothelin-converting enzyme 2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Endothelin-converting enzyme 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ubiquitin-activating enzyme, E1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquitin-activating enzyme, E1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ubiquitin-fold modifier-conjugating enzyme 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquitin-fold modifier-conjugating enzyme 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Endothelin-converting enzyme-like 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Endothelin-converting enzyme-like 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ubiquitin-conjugating enzyme E2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquitin-conjugating enzyme E2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
mRNA capping enzyme Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the mRNA capping enzyme protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Eukaryotic glycogen debranching enzyme, N-terminal domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Eukaryotic glycogen debranching enzyme, N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mandelate racemase/muconate lactonizing enzyme/methylaspartate ammonia-lyase Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mandelate racemase/muconate lactonizing enzyme/methylaspartate ammonia-lyase protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cobalamin (vitamin B12)-dependent enzyme, catalytic Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cobalamin (vitamin B12)-dependent enzyme, catalytic protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ubiquitin-activating enzyme, E1, active site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquitin-activating enzyme, E1, active site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
CDK5 and ABL1 enzyme substrate 1/2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the CDK5 and ABL1 enzyme substrate 1/2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Peptidase A1, beta-site APP cleaving enzyme, BACE Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Peptidase A1, beta-site APP cleaving enzyme, BACE protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Prohormone convertase enzyme Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Prohormone convertase enzyme protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ubiquitin-conjugating enzyme/RWD-like Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquitin-conjugating enzyme/RWD-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mandelate racemase/muconate lactonizing enzyme, N-terminal domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mandelate racemase/muconate lactonizing enzyme, N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ubiquitin-conjugating enzyme E2-binding protein Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquitin-conjugating enzyme E2-binding protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mandelate racemase/muconate lactonizing enzyme, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mandelate racemase/muconate lactonizing enzyme, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Scavenger mRNA decapping enzyme, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Scavenger mRNA decapping enzyme, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Lariat debranching enzyme, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Lariat debranching enzyme, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mandelate racemase/muconate lactonizing enzyme, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mandelate racemase/muconate lactonizing enzyme, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA breaking-rejoining enzyme, catalytic core Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA breaking-rejoining enzyme, catalytic core protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ubiquitin-like modifier-activating enzyme Atg7 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquitin-like modifier-activating enzyme Atg7 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ubiquitin/SUMO-activating enzyme E1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquitin/SUMO-activating enzyme E1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ubiquitin activating enzyme, alpha domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquitin activating enzyme, alpha domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Glutathione-dependent formaldehyde-activating enzyme/centromere protein V Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutathione-dependent formaldehyde-activating enzyme/centromere protein V protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ubiquitin-conjugating enzyme, active site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquitin-conjugating enzyme, active site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Peptidase A1, beta-site APP cleaving enzyme 2, BACE 2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Peptidase A1, beta-site APP cleaving enzyme 2, BACE 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Malic enzyme, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Malic enzyme, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Tryptophan synthase beta subunit-like PLP-dependent enzyme Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Tryptophan synthase beta subunit-like PLP-dependent enzyme protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cys/Met metabolism, pyridoxal phosphate-dependent enzyme Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cys/Met metabolism, pyridoxal phosphate-dependent enzyme protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Sulfatase-modifying factor enzyme Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Sulfatase-modifying factor enzyme protein domain from the InterPro Predicted Protein Domain Annotations dataset.
abnormal angiotensin i-converting enzyme activity Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal angiotensin i-converting enzyme activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
increased lysosomal enzyme secretion Gene Set From MPO Gene-Phenotype Associations gene mutations causing the increased lysosomal enzyme secretion phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
decreased lysosomal enzyme secretion Gene Set From MPO Gene-Phenotype Associations gene mutations causing the decreased lysosomal enzyme secretion phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
decreased angiotensin i-converting enzyme activity Gene Set From MPO Gene-Phenotype Associations gene mutations causing the decreased angiotensin i-converting enzyme activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
abnormal enzyme/ coenzyme level Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal enzyme/ coenzyme level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
increased angiotensin i-converting enzyme activity Gene Set From MPO Gene-Phenotype Associations gene mutations causing the increased angiotensin i-converting enzyme activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
abnormal circulating enzyme level Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal circulating enzyme level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
abnormal urine enzyme level Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal urine enzyme level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
abnormal enzyme/coenzyme activity Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal enzyme/coenzyme activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
[impdh2 enzyme activity, variation in] Gene Set From OMIM Gene-Disease Associations genes associated with the [impdh2 enzyme activity, variation in] phenotype from the curated OMIM Gene-Disease Associations dataset.
[angiotensin i-converting enzyme, benign serum increase] Gene Set From OMIM Gene-Disease Associations genes associated with the [angiotensin i-converting enzyme, benign serum increase] phenotype from the curated OMIM Gene-Disease Associations dataset.
enzyme-inhibitors Gene Set From Phosphosite Textmining Biological Term Annotations proteins co-occuring with the biological term enzyme-inhibitors in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.
tissues, cell types and enzyme sources Gene Set From TISSUES Curated Tissue Protein Expression Evidence Scores proteins highly expressed in the tissue tissues, cell types and enzyme sources from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.
tissues, cell types and enzyme sources Gene Set From TISSUES Experimental Tissue Protein Expression Evidence Scores proteins highly expressed in the tissue tissues, cell types and enzyme sources in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset.
tissues, cell types and enzyme sources Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue tissues, cell types and enzyme sources in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
Combined Molybdoflavoprotein Enzyme Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Combined Molybdoflavoprotein Enzyme Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mitochondrial Enzyme Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Enzyme Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Finding Of Liver Enzyme Levels Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Finding Of Liver Enzyme Levels in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Measurement Of Liver Enzyme Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Measurement Of Liver Enzyme in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Abnormality Of Circulating Enzyme Level Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormality Of Circulating Enzyme Level in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Angiotensin I-Converting Enzyme, Benign Serum Increase Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Angiotensin I-Converting Enzyme, Benign Serum Increase in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Enzyme Inhibition Disorder Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Enzyme Inhibition Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Abnormal Enzyme/Coenzyme Activity Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Enzyme/Coenzyme Activity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Bifunctional Peroxisomal Enzyme Deficiency Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Bifunctional Peroxisomal Enzyme Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Mitochondrial Malic Enzyme Reduced Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mitochondrial Malic Enzyme Reduced in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Impdh2 Enzyme Activity, Variation In Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Impdh2 Enzyme Activity, Variation In in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Enzyme Activity Finding Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Enzyme Activity Finding in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
enzyme-linked receptor protein signaling pathway Gene Set From GO Biological Process Annotations 2023 genes participating in the enzyme-linked receptor protein signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset.
enzyme-directed rRNA pseudouridine synthesis Gene Set From GO Biological Process Annotations 2023 genes participating in the enzyme-directed rRNA pseudouridine synthesis biological process from the curated GO Biological Process Annotations 2023 dataset.
recruitment of mRNA capping enzyme to RNA polymerase II holoenzyme complex Gene Set From GO Biological Process Annotations 2023 genes participating in the recruitment of mRNA capping enzyme to RNA polymerase II holoenzyme complex biological process from the curated GO Biological Process Annotations 2023 dataset.
UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase complex Gene Set From GO Cellular Component Annotations 2023 proteins localized to the UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase complex cellular component from the curated GO Cellular Component Annotations 2023 dataset.
ubiquitin conjugating enzyme activity Gene Set From GO Molecular Function Annotations 2023 genes performing the ubiquitin conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
ubiquitin-like protein conjugating enzyme binding Gene Set From GO Molecular Function Annotations 2023 genes performing the ubiquitin-like protein conjugating enzyme binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.
ubiquitin conjugating enzyme binding Gene Set From GO Molecular Function Annotations 2023 genes performing the ubiquitin conjugating enzyme binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.
malic enzyme activity Gene Set From GO Molecular Function Annotations 2023 genes performing the malic enzyme activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
small protein activating enzyme binding Gene Set From GO Molecular Function Annotations 2023 genes performing the small protein activating enzyme binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.
SUMO conjugating enzyme activity Gene Set From GO Molecular Function Annotations 2023 genes performing the SUMO conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
1,4-alpha-glucan branching enzyme activity Gene Set From GO Molecular Function Annotations 2023 genes performing the 1,4-alpha-glucan branching enzyme activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity Gene Set From GO Molecular Function Annotations 2023 genes performing the UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
NEDD8 conjugating enzyme activity Gene Set From GO Molecular Function Annotations 2023 genes performing the NEDD8 conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
RNA lariat debranching enzyme activity Gene Set From GO Molecular Function Annotations 2023 genes performing the RNA lariat debranching enzyme activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
RNA polymerase core enzyme binding Gene Set From GO Molecular Function Annotations 2023 genes performing the RNA polymerase core enzyme binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.
UFM1 conjugating enzyme activity Gene Set From GO Molecular Function Annotations 2023 genes performing the UFM1 conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
RNA lariat debranching enzyme activator activity Gene Set From GO Molecular Function Annotations 2023 genes performing the RNA lariat debranching enzyme activator activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
ubiquitin-like protein conjugating enzyme activity Gene Set From GO Molecular Function Annotations 2023 genes performing the ubiquitin-like protein conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.
abnormal enzyme/coenzyme level Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal enzyme/coenzyme level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
abnormal enzyme/coenzyme activity Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal enzyme/coenzyme activity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
abnormal circulating enzyme level Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal circulating enzyme level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
abnormal urine enzyme level Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal urine enzyme level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
decreased lysosomal enzyme secretion Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased lysosomal enzyme secretion phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
decreased angiotensin I-converting enzyme activity Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased angiotensin I-converting enzyme activity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
increased lysosomal enzyme secretion Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the increased lysosomal enzyme secretion phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
increased angiotensin I-converting enzyme activity Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the increased angiotensin I-converting enzyme activity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
abnormal angiotensin I-converting enzyme activity Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal angiotensin I-converting enzyme activity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
enzyme-linked receptor protein signaling pathway Gene Set From GO Biological Process Annotations 2025 genes participating in the enzyme-linked receptor protein signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset.
enzyme-directed rRNA pseudouridine synthesis Gene Set From GO Biological Process Annotations 2025 genes participating in the enzyme-directed rRNA pseudouridine synthesis biological process from the curated GO Biological Process Annotations 2025 dataset.
UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase complex Gene Set From GO Cellular Component Annotations 2025 proteins localized to the UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase complex cellular component from the curated GO Cellular Component Annotations 2025 dataset.
ubiquitin conjugating enzyme activity Gene Set From GO Molecular Function Annotations 2025 genes performing the ubiquitin conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
ubiquitin-like protein conjugating enzyme binding Gene Set From GO Molecular Function Annotations 2025 genes performing the ubiquitin-like protein conjugating enzyme binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.
ubiquitin conjugating enzyme binding Gene Set From GO Molecular Function Annotations 2025 genes performing the ubiquitin conjugating enzyme binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.
malic enzyme activity Gene Set From GO Molecular Function Annotations 2025 genes performing the malic enzyme activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
small protein activating enzyme binding Gene Set From GO Molecular Function Annotations 2025 genes performing the small protein activating enzyme binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.
SUMO conjugating enzyme activity Gene Set From GO Molecular Function Annotations 2025 genes performing the SUMO conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
1,4-alpha-glucan branching enzyme activity Gene Set From GO Molecular Function Annotations 2025 genes performing the 1,4-alpha-glucan branching enzyme activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity Gene Set From GO Molecular Function Annotations 2025 genes performing the UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
NEDD8 conjugating enzyme activity Gene Set From GO Molecular Function Annotations 2025 genes performing the NEDD8 conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
Atg12 conjugating enzyme activity Gene Set From GO Molecular Function Annotations 2025 genes performing the Atg12 conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
Atg8-family conjugating enzyme activity Gene Set From GO Molecular Function Annotations 2025 genes performing the Atg8-family conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
RNA lariat debranching enzyme activity Gene Set From GO Molecular Function Annotations 2025 genes performing the RNA lariat debranching enzyme activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
RNA polymerase core enzyme binding Gene Set From GO Molecular Function Annotations 2025 genes performing the RNA polymerase core enzyme binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.
UFM1 conjugating enzyme activity Gene Set From GO Molecular Function Annotations 2025 genes performing the UFM1 conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
RNA lariat debranching enzyme activator activity Gene Set From GO Molecular Function Annotations 2025 genes performing the RNA lariat debranching enzyme activator activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
ubiquitin-like protein conjugating enzyme activity Gene Set From GO Molecular Function Annotations 2025 genes performing the ubiquitin-like protein conjugating enzyme activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.
tissues, cell types and enzyme sources Gene Set From TISSUES Curated Tissue Protein Expression Evidence Scores 2025 proteins highly expressed in the tissue tissues, cell types and enzyme sources from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
tissues, cell types and enzyme sources Gene Set From TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 proteins highly expressed in the tissue tissues, cell types and enzyme sources in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset.
tissues, cell types and enzyme sources Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue tissues, cell types and enzyme sources in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
Tricarboxylic acid cycle enzyme complex Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Tricarboxylic acid cycle enzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
Apolipoprotein B mRNA editing enzyme complex Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Apolipoprotein B mRNA editing enzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
SUMO activating enzyme complex Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the SUMO activating enzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
Ubiquitin conjugating enzyme complex Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Ubiquitin conjugating enzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
Mitochondrial tricarboxylic acid cycle enzyme complex Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Mitochondrial tricarboxylic acid cycle enzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase complex Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
Apolipoprotein B mRNA editing enzyme complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Apolipoprotein B mRNA editing enzyme complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
Tricarboxylic acid cycle enzyme complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Tricarboxylic acid cycle enzyme complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
Mitochondrial tricarboxylic acid cycle enzyme complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Mitochondrial tricarboxylic acid cycle enzyme complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
SUMO activating enzyme complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the SUMO activating enzyme complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
Ubiquitin conjugating enzyme complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Ubiquitin conjugating enzyme complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
Ubiquitin activating enzyme complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Ubiquitin activating enzyme complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
Abnormal circulating enzyme concentration Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Abnormal circulating enzyme concentration phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined molybdoflavoprotein enzyme deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined molybdoflavoprotein enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Bifunctional peroxisomal enzyme deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Bifunctional peroxisomal enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Enzyme activity finding Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Enzyme activity finding phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Cough in response to angiotensin-converting enzyme inhibitor drugs Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cough in response to angiotensin-converting enzyme inhibitor drugs phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Cerebrospinal fluid beta-site APP cleaving enzyme levels Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cerebrospinal fluid beta-site APP cleaving enzyme levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Liver enzyme levels (alanine transaminase) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Liver enzyme levels (alanine transaminase) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Liver enzyme levels (aspartate transaminase) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Liver enzyme levels (aspartate transaminase) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Liver enzyme levels Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Liver enzyme levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Liver enzyme levels (gamma-glutamyl transferase) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Liver enzyme levels (gamma-glutamyl transferase) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Liver enzyme levels (alkaline phosphatase) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Liver enzyme levels (alkaline phosphatase) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Angiotensin-converting enzyme activity Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Angiotensin-converting enzyme activity phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
PEG-asparaginase hypersensitivity without enzyme activity in childhood acute lymphoblastic leukaemia Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the PEG-asparaginase hypersensitivity without enzyme activity in childhood acute lymphoblastic leukaemia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Angiotensin-converting enzyme inhibitor intolerance Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Angiotensin-converting enzyme inhibitor intolerance phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
ENZYME INHIBITOR Gene Set From DGIdb Drug Targets 2026 interacting proteins for the ENZYME INHIBITOR drug from theDGIdb Drug Targets 2026 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.
weakness due to upper motor neuron dysfunction Gene Set From HPO Gene-Disease Associations genes associated with the weakness due to upper motor neuron dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
self-mutilation of tongue and lips due to involuntary movements Gene Set From HPO Gene-Disease Associations genes associated with the self-mutilation of tongue and lips due to involuntary movements phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
respiratory insufficiency due to defective ciliary clearance Gene Set From HPO Gene-Disease Associations genes associated with the respiratory insufficiency due to defective ciliary clearance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
recurrent infections due to aspiration Gene Set From HPO Gene-Disease Associations genes associated with the recurrent infections due to aspiration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
generalized hypotonia due to defect at the neuromuscular junction Gene Set From HPO Gene-Disease Associations genes associated with the generalized hypotonia due to defect at the neuromuscular junction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
chronic hepatitis due to cryptospridium infection Gene Set From HPO Gene-Disease Associations genes associated with the chronic hepatitis due to cryptospridium infection phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
subperiosteal erosions due to secondary hyperparathyroidism Gene Set From HPO Gene-Disease Associations genes associated with the subperiosteal erosions due to secondary hyperparathyroidism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
painless fractures due to injury Gene Set From HPO Gene-Disease Associations genes associated with the painless fractures due to injury phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
hepatic abscesses due to immunodeficiency Gene Set From HPO Gene-Disease Associations genes associated with the hepatic abscesses due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
cellulitis due to immunodeficiency Gene Set From HPO Gene-Disease Associations genes associated with the cellulitis due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
decreased sweating due to autonomic dysfunction Gene Set From HPO Gene-Disease Associations genes associated with the decreased sweating due to autonomic dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
intermittent episodes of respiratory insufficiency due to muscle weakness Gene Set From HPO Gene-Disease Associations genes associated with the intermittent episodes of respiratory insufficiency due to muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
orthostatic hypotension due to autonomic dysfunction Gene Set From HPO Gene-Disease Associations genes associated with the orthostatic hypotension due to autonomic dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
{chronic infections, due to mbl deficiency} Gene Set From OMIM Gene-Disease Associations genes associated with the {chronic infections, due to mbl deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.
{hepatic fibrosis susceptibility due to schistosoma mansoni infection} Gene Set From OMIM Gene-Disease Associations genes associated with the {hepatic fibrosis susceptibility due to schistosoma mansoni infection} phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to hrg deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to hrg deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to thrombomodulin defect Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to thrombomodulin defect phenotype from the curated OMIM Gene-Disease Associations dataset.
severe combined immunodeficiency due to il2 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to protein s deficiency, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein s deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
bleeding disorder due to p2rx1 defect Gene Set From OMIM Gene-Disease Associations genes associated with the bleeding disorder due to p2rx1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to phosphofructokinase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to phosphofructokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
nephropathy due to cfhr5 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the nephropathy due to cfhr5 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
encephalopahty, lethal, due to defective mitochondrial peroxisomal fission Gene Set From OMIM Gene-Disease Associations genes associated with the encephalopahty, lethal, due to defective mitochondrial peroxisomal fission phenotype from the curated OMIM Gene-Disease Associations dataset.
megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to protein s deficiency, autosomal dominant Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein s deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.
chronic granulomatous disease, autosomal, due to deficiency of cyba Gene Set From OMIM Gene-Disease Associations genes associated with the chronic granulomatous disease, autosomal, due to deficiency of cyba phenotype from the curated OMIM Gene-Disease Associations dataset.
?isolated growth hormone deficiency due to defect in ghrf Gene Set From OMIM Gene-Disease Associations genes associated with the ?isolated growth hormone deficiency due to defect in ghrf phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to heparin cofactor ii deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to heparin cofactor ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
obesity, morbid, due to leptin receptor deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the obesity, morbid, due to leptin receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hypercholesterolemia, due to ligand-defective apo b Gene Set From OMIM Gene-Disease Associations genes associated with the hypercholesterolemia, due to ligand-defective apo b phenotype from the curated OMIM Gene-Disease Associations dataset.
glucocorticoid deficiency, due to acth unresponsiveness Gene Set From OMIM Gene-Disease Associations genes associated with the glucocorticoid deficiency, due to acth unresponsiveness phenotype from the curated OMIM Gene-Disease Associations dataset.
disordered steroidogenesis due to cytochrome p450 oxidoreductase Gene Set From OMIM Gene-Disease Associations genes associated with the disordered steroidogenesis due to cytochrome p450 oxidoreductase phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
muscular dystrophy, congenital, due to partial lama2 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital, due to partial lama2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemorrhagic diathesis due to 'antithrombin' pittsburgh Gene Set From OMIM Gene-Disease Associations genes associated with the hemorrhagic diathesis due to 'antithrombin' pittsburgh phenotype from the curated OMIM Gene-Disease Associations dataset.
immunodeficiency due to purine nucleoside phosphorylase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to glutathione peroxidase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to glutathione peroxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia Gene Set From OMIM Gene-Disease Associations genes associated with the hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to protein c deficiency, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein c deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
lacticacidemia due to pdx1 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the lacticacidemia due to pdx1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
omphalocele due to duplication of 1p31.3 Gene Set From OMIM Gene-Disease Associations genes associated with the omphalocele due to duplication of 1p31.3 phenotype from the curated OMIM Gene-Disease Associations dataset.
muscular dystrophy, congenital, due to itga7 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital, due to itga7 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
anemia, hemolytic, due to umph1 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the anemia, hemolytic, due to umph1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
homocystinuria due to mthfr deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the homocystinuria due to mthfr deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
severe combined immunodeficiency due to ada deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
leigh syndrome due to mitochondrial complex i deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the leigh syndrome due to mitochondrial complex i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to protein c deficiency, autosomal dominant Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein c deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.
adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
cirrhosis due to liver phosphorylase kinase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the cirrhosis due to liver phosphorylase kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
metachromatic leukodystrophy due to sap-b deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the metachromatic leukodystrophy due to sap-b deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
gigantism due to ghrf hypersecretion Gene Set From OMIM Gene-Disease Associations genes associated with the gigantism due to ghrf hypersecretion phenotype from the curated OMIM Gene-Disease Associations dataset.
obesity, morbid, due to leptin deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the obesity, morbid, due to leptin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
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.
growth retardation with deafness and mental retardation due to igf1 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the growth retardation with deafness and mental retardation due to igf1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hyperammonemia due to carbonic anhydrase va deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hyperammonemia due to carbonic anhydrase va deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to g6pd deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to g6pd deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
{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.
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.
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.
Peripheral Neuropathy Due To And Following Chemotherapy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Peripheral Neuropathy Due To And Following Chemotherapy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hemolytic Disease Of Fetus Or Newborn Due To Abo Immunization Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hemolytic Disease Of Fetus Or Newborn Due To Abo Immunization in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Viral Gastroenteritis Due To Rotavirus Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Viral Gastroenteritis Due To Rotavirus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Dementia Due To Alzheimer'S Disease (Disorder) Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Dementia Due To Alzheimer'S Disease (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Whooping Cough Due To Unspecified Organism Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Whooping Cough Due To Unspecified Organism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Osteopenia Due To Disuse Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Osteopenia Due To Disuse in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Scid Due To Ada Deficiency, Early-Onset Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Scid Due To Ada Deficiency, Early-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hypermethioninemia Due To Adenosine Kinase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hypermethioninemia Due To Adenosine Kinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Disease Due To Parvoviridae Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Disease Due To Parvoviridae in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Chronic Respiratory Disease Due To Mycoplasma Gallisepticum Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Chronic Respiratory Disease Due To Mycoplasma Gallisepticum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Differentiation Syndrome Due To And Following Chemotherapy Co-Occurrent With Acute Promyelocytic Leukemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Differentiation Syndrome Due To And Following Chemotherapy Co-Occurrent With Acute Promyelocytic Leukemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Primary Adenocarcinoma Of Lower Third Of Esophagus Due To Barrett Esophagus Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Primary Adenocarcinoma Of Lower Third Of Esophagus Due To Barrett Esophagus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Addison'S Disease Due To Autoimmunity Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Addison'S Disease Due To Autoimmunity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Eye Disorder Due To Diabetes Mellitus Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Eye Disorder Due To Diabetes Mellitus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ketoacidosis Due To Acute Alcohol Intoxication Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ketoacidosis Due To Acute Alcohol Intoxication in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Human Anaplasmosis Due To Anaplasma Phagocytophilum Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Human Anaplasmosis Due To Anaplasma Phagocytophilum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
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.
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Antibody Deficiency Due To Defect In Cd19 Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Antibody Deficiency Due To Defect In Cd19 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Disease Due To Neisseria Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Disease Due To Neisseria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Osteomyelitis Due To Staphylococcus Aureus Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Osteomyelitis Due To Staphylococcus Aureus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Chronic Hepatitis Due To Cryptosporidium Infection Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Chronic Hepatitis Due To Cryptosporidium Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hemosiderosis, Systemic, Due To Aceruloplasminemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hemosiderosis, Systemic, Due To Aceruloplasminemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Infection Due To Brucella Suis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Infection Due To Brucella Suis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Intestinal Obstruction Co-Occurrent And Due To Decreased Peristalsis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Intestinal Obstruction Co-Occurrent And Due To Decreased Peristalsis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
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.
Urticaria Due To Cold And Heat Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Urticaria Due To Cold And Heat in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Urticaria Due To Cold Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Urticaria Due To Cold in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Acute Bronchitis Due To Respiratory Syncytial Virus Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Acute Bronchitis Due To Respiratory Syncytial Virus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Irritant Contact Dermatitis Due To Incontinence Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Irritant Contact Dermatitis Due To Incontinence in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Congenital Thrombotic Disease, Due To Protein C Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Congenital Thrombotic Disease, Due To Protein C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Metachromatic Leukodystrophy Due To Saposin B Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Metachromatic Leukodystrophy Due To Saposin B Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hemolytic Disease Of Fetus Or Newborn Due To Rhd Isoimmunization Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hemolytic Disease Of Fetus Or Newborn Due To Rhd Isoimmunization in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Extraoral Halitosis Due To Methanethiol Oxidase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Extraoral Halitosis Due To Methanethiol Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Complement Component 4, Partial Deficiency Of, Due To Dysfunctional C1 Inhibitor Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Complement Component 4, Partial Deficiency Of, Due To Dysfunctional C1 Inhibitor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Dermatophilosis Due To Dermatophilus Congolensis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Dermatophilosis Due To Dermatophilus Congolensis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Perinatal Jaundice Due To Inspissated Bile Syndrome Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Perinatal Jaundice Due To Inspissated Bile Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Infection Due To Clostridium Chauvoei Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Infection Due To Clostridium Chauvoei in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Developmental And Speech Delay Due To Sox5 Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Developmental And Speech Delay Due To Sox5 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Chronic Rhinitis Due To Narrow Nasal Airway Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Chronic Rhinitis Due To Narrow Nasal Airway in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Osteomalacia Due To Vitamin D Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Osteomalacia Due To Vitamin D Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Polycythemia Due To Erythropoietin Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To Erythropoietin in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Polycythemia Due To Excess Erythopoetin Production Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To Excess Erythopoetin Production in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Polycythemia Due To Fall In Plasma Volume Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To Fall In Plasma Volume in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Polycythemia Due To High Altitude Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To High Altitude in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Polycythemia Due To Stress Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To Stress in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Distal Muscle Atrophy Due To Neurologic Disease Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Distal Muscle Atrophy Due To Neurologic Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Respiratory Insufficiency Due To Muscle Weakness Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Respiratory Insufficiency Due To Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Intermittent Episodes Of Respiratory Insufficiency Due To Muscle Weakness Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Intermittent Episodes Of Respiratory Insufficiency Due To Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Respiratory Insufficiency Due To Defective Ciliary Clearance Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Respiratory Insufficiency Due To Defective Ciliary Clearance in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Orthostatic Hypotension Due To Autonomic Dysfunction Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Orthostatic Hypotension Due To Autonomic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Chromosomal Mosaicism Due To Mitotic Instability Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Chromosomal Mosaicism Due To Mitotic Instability in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Weakness Due To Upper Motor Neuron Dysfunction Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Weakness Due To Upper Motor Neuron Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Cephalhematoma Due To Birth Trauma Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cephalhematoma Due To Birth Trauma in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Generalized Hypotonia Due To Defect At The Neuromuscular Junction Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Generalized Hypotonia Due To Defect At The Neuromuscular Junction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Bowing Of Limbs Due To Multiple Fractures Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Bowing Of Limbs Due To Multiple Fractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Restricted Neck Movement Due To Contractures Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Restricted Neck Movement Due To Contractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Decreased Cervical Spine Flexion Due To Contractures Of Posterior Cervical Muscles Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Decreased Cervical Spine Flexion Due To Contractures Of Posterior Cervical Muscles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Painless Fractures Due To Injury Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Painless Fractures Due To Injury in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Decreased Sweating Due To Autonomic Dysfunction Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Decreased Sweating Due To Autonomic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Acanthocytosis Due To Band 3 Ht Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Acanthocytosis Due To Band 3 Ht in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Self-Mutilation Of Tongue And Lips Due To Involuntary Movements Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Self-Mutilation Of Tongue And Lips Due To Involuntary Movements in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Apoptosis related network due to altered Notch3 in ovarian cancer Gene Set From WikiPathways Pathways 2024 proteins participating in the Apoptosis related network due to altered Notch3 in ovarian cancer pathway from the WikiPathways Pathways 2024 dataset.
Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects Gene Set From Reactome Pathways 2024 proteins participating in the Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects pathway from the Reactome Pathways 2024 dataset.
Aberrant regulation of mitotic 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 Defective p16INK4A binding to CDK4 and CDK6 Gene Set From Reactome Pathways 2024 proteins participating in the Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 pathway from the Reactome Pathways 2024 dataset.
Evasion of Oncogene Induced Senescence Due to p14ARF Defects Gene Set From Reactome Pathways 2024 proteins participating in the Evasion of Oncogene Induced Senescence Due to p14ARF Defects pathway from the Reactome Pathways 2024 dataset.
Evasion of Oncogene Induced Senescence Due to p16INK4A Defects Gene Set From Reactome Pathways 2024 proteins participating in the Evasion of Oncogene Induced Senescence Due to p16INK4A Defects pathway from the Reactome Pathways 2024 dataset.
Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 Gene Set From Reactome Pathways 2024 proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 pathway from the Reactome Pathways 2024 dataset.
Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Gene Set From Reactome Pathways 2024 proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 pathway from the Reactome Pathways 2024 dataset.
Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects Gene Set From Reactome Pathways 2024 proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects pathway from the Reactome Pathways 2024 dataset.
Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects Gene Set From Reactome Pathways 2024 proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects pathway from the Reactome Pathways 2024 dataset.
Loss of function of TP53 in cancer due to loss of tetramerization ability Gene Set From Reactome Pathways 2024 proteins participating in the Loss of function of TP53 in cancer due to loss of tetramerization ability pathway from the Reactome Pathways 2024 dataset.
Severe congenital encephalopathy due to MECP2 mutation Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe congenital encephalopathy due to MECP2 mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Male infertility due to globozoospermia Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Male infertility due to globozoospermia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Congenital muscular dystrophy due to LMNA mutation Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital muscular dystrophy due to LMNA mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Male infertility due to globozoospermia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Male infertility due to globozoospermia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Male infertility due to acephalic spermatozoa Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Male infertility due to acephalic spermatozoa in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Thrombocytopenia due to platelet alloimmunization Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombocytopenia due to platelet alloimmunization in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Polyneuropathy due to drug Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Polyneuropathy due to drug in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Congenital muscular dystrophy due to LMNA mutation Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital muscular dystrophy due to LMNA mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Encephalopathy due to defective mitochondrial and peroxisomal fission 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Encephalopathy due to defective mitochondrial and peroxisomal fission 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Thrombophilia due to activated protein C resistance Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombophilia due to activated protein C resistance in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Thrombophilia due to thrombin defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombophilia due to thrombin defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Multiple epiphyseal dysplasia due to collagen 9 anomaly Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Multiple epiphyseal dysplasia due to collagen 9 anomaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Congenital muscular dystrophy due to integrin alpha-7 deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital muscular dystrophy due to integrin alpha-7 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Severe congenital encephalopathy due to MECP2 mutation Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital encephalopathy due to MECP2 mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Thrombophilia due to HRG deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombophilia due to HRG deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
X-linked thrombophilia due to factor IX defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked thrombophilia due to factor IX defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive thrombophilia due to protein C deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive thrombophilia due to protein C deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant thrombophilia due to protein C deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant thrombophilia due to protein C deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Thrombophilia due to thrombomodulin defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombophilia due to thrombomodulin defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant thrombophilia due to protein S deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant thrombophilia due to protein S deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperphenylalaninemia due to tetrahydrobiopterin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Thrombophilia due to activated protein C resistance Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Thrombophilia due to activated protein C resistance phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Thrombophilia due to protein C deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Thrombophilia due to protein C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hereditary thrombophilia due to congenital protein C deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary thrombophilia due to congenital protein C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
SCID due to ADA deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the SCID due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
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.
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to melanocortin 4 receptor deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to melanocortin 4 receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital muscular dystrophy due to LMNA mutation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital muscular dystrophy due to LMNA mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
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.
Glycogen storage disease due to muscle and heart glycogen synthase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to muscle and heart glycogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Microcephalic primordial dwarfism due to RTTN deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Microcephalic primordial dwarfism due to RTTN deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ketoacidosis due to monocarboxylate transporter-1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Ketoacidosis due to monocarboxylate transporter-1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Metabolic myopathy due to lactate transporter defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Metabolic myopathy due to lactate transporter defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Microcephalic primordial dwarfism due to ZNF335 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Microcephalic primordial dwarfism due to ZNF335 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autism spectrum disorder due to AUTS2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autism spectrum disorder due to AUTS2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Pyogenic bacterial infections due to MyD88 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Pyogenic bacterial infections due to MyD88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Alagille syndrome due to a NOTCH2 point mutation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Alagille syndrome due to a NOTCH2 point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Methylmalonic acidemia due to transcobalamin receptor defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic acidemia due to transcobalamin receptor defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Childhood encephalopathy due to thiamine pyrophosphokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to CTPS1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CTPS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to CSF3R deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Neurofibromatosis due to NF1 mutation or intragenic deletion Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Neurofibromatosis due to NF1 mutation or intragenic deletion phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to ORAI1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to ORAI1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperinsulinism due to INSR deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to INSR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Immunodeficiency due to CD25 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to CD25 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
DeSanto-Shinawi syndrome due to WAC point mutation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the DeSanto-Shinawi syndrome due to WAC point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to SIM1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to SIM1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hemolytic anemia due to hexokinase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
X-linked lymphoproliferative disease due to XIAP deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked lymphoproliferative disease due to XIAP deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to CARMIL2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CARMIL2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Growth delay due to insulin-like growth factor deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Growth delay due to insulin-like growth factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Immunodeficiency due to MASP-2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to MASP-2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital brain dysgenesis due to glutamine synthetase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital brain dysgenesis due to glutamine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to prohormone convertase I deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to prohormone convertase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to congenital leptin deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to congenital leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperlipidemia due to hepatic triglyceride lipase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperlipidemia due to hepatic triglyceride lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Short stature due to primary acid-labile subunit deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature due to primary acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Immunodeficiency due to defect in CD3-gamma Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to defect in CD3-gamma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
HNSHA due to aldolase A deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to moesin deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to moesin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to erythrocyte adenosine deaminase overproduction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hemolytic anemia due to adenylate kinase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to adenylate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to DNA-PKcs deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to DNA-PKcs deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Encephalopathy due to defective mitochondrial and peroxisomal fission Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Encephalopathy due to defective mitochondrial and peroxisomal fission phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to CORO1A deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CORO1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to OX40 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to OX40 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to IKK2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to IKK2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Beckwith-Wiedemann syndrome due to CDKN1C mutation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Beckwith-Wiedemann syndrome due to CDKN1C mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Myopathy due to calsequestrin and SERCA1 protein overload Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Myopathy due to calsequestrin and SERCA1 protein overload phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal dominant hyperinsulinism due to SUR1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant hyperinsulinism due to SUR1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperinsulinism due to HNF4A deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to HNF4A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hemolytic anemia due to glutathione reductase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to glutathione reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to MALT1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to MALT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
SIN3A-related intellectual disability syndrome due to a point mutation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the SIN3A-related intellectual disability syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to LCK deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to LCK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Immunodeficiency due to a late component of complement deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to a late component of complement deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Lactic aciduria due to D-lactic acid Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Lactic aciduria due to D-lactic acid phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Recurrent Neisseria infections due to factor D deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Recurrent Neisseria infections due to factor D deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Kleefstra syndrome due to a point mutation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Kleefstra syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperphenylalaninemia due to DNAJC12 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperphenylalaninemia due to DNAJC12 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to CEP19 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to CEP19 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Pancytopenia due to IKZF1 mutations Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Pancytopenia due to IKZF1 mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hao-Fountain syndrome due to USP7 mutation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hao-Fountain syndrome due to USP7 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Progressive retinal dystrophy due to retinol transport defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive retinal dystrophy due to retinol transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Primary immunodeficiency syndrome due to p14 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Primary immunodeficiency syndrome due to p14 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to LAT deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to LAT deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to GINS1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to GINS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hereditary thrombophilia due to congenital histidine-rich Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary thrombophilia due to congenital histidine-rich phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Juvenile arthritis due to defect in LA Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Juvenile arthritis due to defect in LA phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Neurometabolic disorder due to serine deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Neurometabolic disorder due to serine deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Immunodeficiency due to purine nucleoside phosphorylase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hereditary thrombophilia due to congenital protein S deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary thrombophilia due to congenital protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
X-linked acrogigantism due to Xq26 microduplication Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked acrogigantism due to Xq26 microduplication phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Male infertility due to gonadal dysgenesis or sperm disorder Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Male infertility due to gonadal dysgenesis or sperm disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Female infertility due to zona pellucida defect Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Female infertility due to zona pellucida defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Harmonizome 3.0

Slow Acetylator Due To N-Acetyltransferase Enzyme Variant Gene Set

acetylator Gene Set

osteomyelitis leading to amputation due to slow healing fractures Gene Set

Osteomyelitis Leading To Amputation Due To Slow Healing Fractures Gene Set

Ribosomal S6 modification enzyme RimK/Lysine biosynthesis enzyme LysX Gene Set

Glycogen storage disease due to glycogen branching enzyme deficiency Gene Set

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

Myasthenic syndrome, slow-channel congenital Gene Set

hs4 enhancer complex (slow migrating complex) Gene Set

Myasthenic syndrome, congenital, postsynaptic slow-channel Gene Set

slow coronary flow Gene Set

slow Gene Set

slow endocytic recycling Gene Set

transition between fast and slow fiber Gene Set

transition between slow and fast fiber Gene Set

slow-twitch skeletal muscle fiber contraction Gene Set

eeg with abnormally slow frequencies Gene Set

slow saccadic eye movements Gene Set

slow-growing hair Gene Set

eeg with generalized slow activity Gene Set

slow decrease in visual acuity Gene Set

slow progression Gene Set

slow postnatal weight gain Gene Set

slow aging Gene Set

slow extinction of fear memory Gene Set

slow wallerian degeneration Gene Set

myasthenic syndrome, slow-channel congenital Gene Set

{aids, slow progression to} Gene Set

[acetylation, slow] Gene Set

slow muscle Gene Set

slow twitch muscle fiber Gene Set

slow muscle Gene Set

Muscle-slow muscle cell Gene Set

Slow Channel Syndrome Gene Set

Continuous Spike And Waves During Slow Sleep Gene Set

Eeg With Multifocal Slow Activity Gene Set

Slow Progression Gene Set

Slow-Growing Hair Gene Set

Slow Decrease In Visual Acuity Gene Set

Eeg With Continuous Slow Activity Gene Set

Slow-Flow Phenomenon Gene Set

Eeg With Generalized Slow Activity Gene Set

Eeg With Abnormally Slow Frequencies Gene Set

Eeg With Focal Sharp Slow Waves Gene Set

Slow Pupillary Light Response Gene Set

Slow-Growing Nails Gene Set

regulation of slow-twitch skeletal muscle fiber contraction Gene Set

transition between fast and slow fiber Gene Set

slow endocytic recycling Gene Set

slow-twitch skeletal muscle fiber contraction Gene Set

slow axonal transport Gene Set

slow postnatal weight gain Gene Set

slow Wallerian degeneration Gene Set

slow aging Gene Set

slow extinction of fear memory Gene Set

slow movement Gene Set

decreased slow-wave sleep duration Gene Set

abnormal slow-wave sleep pattern Gene Set

regulation of slow-twitch skeletal muscle fiber contraction Gene Set

transition between fast and slow fiber Gene Set

slow endocytic recycling Gene Set

slow-twitch skeletal muscle fiber contraction Gene Set

Slow muscle Gene Set

Slow muscle Gene Set

Slow twitch muscle fiber Gene Set

Slow-Channel Congenital Myasthenia Syndrome Gene Set

Factor B fast/slow polymorphism Gene Set

Continuous spike and waves during slow sleep Gene Set

joint destruction in rheumatoid arthritis (rapid vs slow) Gene Set

Immunodeficiency 18, severe combined immunodeficiency variant Gene Set

Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant Gene Set

Methylmalonic aciduria, cblD type, variant 2 Gene Set

Porphyria, acute intermittent, nonerythroid variant Gene Set

Gm2-gangliosidosis, variant b1 Gene Set

Homocystinuria, cblD type, variant 1 Gene Set

Epidermolysis bullosa, junctional, localisata variant Gene Set

Rett syndrome, congenital variant Gene Set

Tay-Sachs disease, B1 variant Gene Set

Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant Gene Set