myopathy due to cpt ii deficiency

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Results for "myopathy due to cpt ii deficiency": 7 genes, 1001 gene sets

Name
OPHLC Gene Omphalocele due* to duplication of 1p31.3*
PSHK2 Gene Pseudohyperkalemia, familial, 2, due* to red cell leak*
SM2 Gene Hepatic fibrosis susceptibility due* to Schistosoma mansoni infection*
CFTDX Gene Myopathy, congenital, with fiber-type disproportion, X-linked
MHB Gene myopathy, hyaline body, autosomal recessive
WDM Gene Welander distal myopathy
MPD3 Gene Myopathy, distal 3
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.
cpt ii deficiency, lethal neonatal Gene Set From OMIM Gene-Disease Associations genes associated with the cpt ii deficiency, lethal neonatal phenotype from the curated OMIM Gene-Disease Associations dataset.
cpt deficiency, hepatic, type ii Gene Set From OMIM Gene-Disease Associations genes associated with the cpt deficiency, hepatic, type ii phenotype from the curated OMIM Gene-Disease Associations dataset.
cpt deficiency, hepatic, type ia Gene Set From OMIM Gene-Disease Associations genes associated with the cpt deficiency, hepatic, type ia 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.
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.
cpt Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term cpt in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
Rp-8-CPT-cGMPS Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the Rp-8-CPT-cGMPS ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
CPT Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the CPT ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
Acyltransferase ChoActase/COT/CPT Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Acyltransferase ChoActase/COT/CPT protein domain from the InterPro Predicted Protein Domain Annotations dataset.
BRD-A81936046_8-CPT-2-Me-cAMP_SW620_6.0_h_10.0_um Gene Set From LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the BRD-A81936046_8-CPT-2-Me-cAMP_SW620_6.0_h_10.0_um small molecule perturbation from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
BRD-A81936046_8-CPT-2-Me-cAMP_SW480_6.0_h_10.0_um Gene Set From LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules genes differentially expressed following the BRD-A81936046_8-CPT-2-Me-cAMP_SW480_6.0_h_10.0_um small molecule perturbation from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
RP-8-CPT-CGMPS Gene Set From DGIdb Drug Targets 2026 interacting proteins for the RP-8-CPT-CGMPS drug from theDGIdb Drug Targets 2026 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.
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.
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.
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.
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.
factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene Set From GAD Gene-Disease Associations genes associated with the disease factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene Set From GAD Gene-Disease Associations genes associated with the disease activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
Trifunctional protein deficiency with myopathy and neuropathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset.
Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
COX deficiency, infantile mitochondrial myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease COX deficiency, infantile mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
COX deficiency, benign infantile mitochondrial myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease COX deficiency, benign infantile mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Carbonic anhydrase va deficiency, hyperammonemia due to Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Carbonic anhydrase va deficiency, hyperammonemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
SCID due to ADA deficiency, delayed onset Gene Set From ClinVar Gene-Phenotype Associations genes associated with the SCID due to ADA deficiency, delayed onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thrombophilia due to protein S deficiency, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia due to protein S deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe combined immunodeficiency due to ADA deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
HNSHA due to aldolase A deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gaucher disease, atypical, due to saposin C deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gaucher disease, atypical, due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
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.
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.
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.
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.
Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Obesity, severe, due to leptin deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Adenylate kinase deficiency, hemolytic anemia due to Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Adenylate kinase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.
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.
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.
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.
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.
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.
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.
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.
{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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
obesity, morbid, due to leptin deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the obesity, morbid, due to leptin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
leigh syndrome, due to cox deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the leigh syndrome, due to cox deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
growth retardation with deafness and mental retardation due to igf1 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the growth retardation with deafness and mental retardation due to igf1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hyperammonemia due to carbonic anhydrase va deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hyperammonemia due to carbonic anhydrase va deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to g6pd deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to g6pd deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to glutathione synthetase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to glutathione synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
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.
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.
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.
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.
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.
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.
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.
immunodeficiency due to ficolin 3 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the immunodeficiency due to ficolin 3 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
leigh syndrome due to mitochondrial complex 1 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the leigh syndrome due to mitochondrial complex 1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to triosephosphate isomerase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to triosephosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
{resistance to malaria due to g6pd deficiency} Gene Set From OMIM Gene-Disease Associations genes associated with the {resistance to malaria due to g6pd deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to hexokinase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to hexokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
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.
?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.
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.
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.
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.
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.
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.
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.
Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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 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.
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
SCID due to ADA deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the SCID due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to glycogen branching enzyme deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to glycogen branching enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Predisposition to invasive fungal disease due to CARD9 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Predisposition to invasive fungal disease due to CARD9 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Homocystinuria due to methylene tetrahydrofolate reductase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Homocystinuria due to methylene tetrahydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Glycogen storage disease due to glucose-6-phosphatase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to glucose-6-phosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to CD3gamma deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to CD3gamma deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Leigh syndrome due to mitochondrial complex IV deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Leigh syndrome due to mitochondrial complex IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Dopa-responsive dystonia due to sepiapterin reductase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Dopa-responsive dystonia due to sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to partial RAG1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to partial RAG1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to ZAP70 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to ZAP70 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Thrombophilia due to protein S deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Thrombophilia due to protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to pro-opiomelanocortin deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to pro-opiomelanocortin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Gaucher disease due to saposin C deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Gaucher disease due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Krabbe disease due to saposin A deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Krabbe disease due to saposin A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hemolytic anemia due to glucophosphate isomerase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to glucophosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to melanocortin 4 receptor deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to melanocortin 4 receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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 adenylate kinase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to adenylate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to DNA-PKcs deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to DNA-PKcs deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to CORO1A deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CORO1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to OX40 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to OX40 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to IKK2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to IKK2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
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.
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.
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.
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.
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.
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.
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.
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.
Neuraminidase deficiency with beta-galactosidase deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Neuraminidase deficiency with beta-galactosidase deficiency from the curated CTD Gene-Disease Associations dataset.
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE from the curated CTD Gene-Disease Associations dataset.
eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia Gene Set From GAD Gene-Disease Associations genes associated with the disease eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis Gene Set From GAD Gene-Disease Associations genes associated with the disease blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis Gene Set From GAD Gene-Disease Associations genes associated with the disease blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary Gene Set From GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis Gene Set From GAD Gene-Disease Associations genes associated with the disease activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload Gene Set From GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
choline deficiency; dna damage; folic acid deficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease choline deficiency; dna damage; folic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia Gene Set From GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
anemia, iron-deficiency; iron deficiency anaemia Gene Set From GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
protein c deficiency; protein s deficiency; venous thrombosis Gene Set From GAD Gene-Disease Associations genes associated with the disease protein c deficiency; protein s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
anemia, iron-deficiency; iron deficiency anaemia; iron overload Gene Set From GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism Gene Set From GAD Gene-Disease Associations genes associated with the disease neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia Gene Set From GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) Gene Set From Reactome Pathways 2014 proteins participating in the Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) pathway from the Reactome Pathways dataset.
Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) pathway from the Reactome Pathways dataset.
Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) Gene Set From Reactome Pathways 2014 proteins participating in the Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) pathway from the Reactome Pathways dataset.
Defective HK1 causes hexokinase deficiency (HK deficiency) Gene Set From Reactome Pathways 2024 proteins participating in the Defective HK1 causes hexokinase deficiency (HK deficiency) pathway from the Reactome Pathways 2024 dataset.
Bethlem myopathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bethlem myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myofibrillar myopathy, ZASP-related Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myofibrillar myopathy, ZASP-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, lactic acidosis, and sideroblastic anemia 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, centronuclear Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, centronuclear phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Epiphyseal dysplasia, multiple, 3, with myopathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Epiphyseal dysplasia, multiple, 3, with myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nemaline myopathy 3, autosomal dominant or recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 3, autosomal dominant or recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Inclusion body myopathy 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, reducing body, X-linked, early-onset, severe Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, reducing body, X-linked, early-onset, severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, centronuclear, 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, centronuclear, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, myosin storage Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, myosin storage phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, actin, congenital, with cores Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, actin, congenital, with cores phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Peripheral neuropathy, myopathy, hoarseness, and hearing loss Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Minicore myopathy with external ophthalmoplegia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Minicore myopathy with external ophthalmoplegia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Visceral myopathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Visceral myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Native American myopathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Native American myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy with early-onset paget disease and frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, lactic acidosis, and sideroblastic anemia 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nonaka myopathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nonaka myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, tubular aggregate, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, tubular aggregate, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myofibrillar myopathy, filamin C-related Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myofibrillar myopathy, filamin C-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy with lactic acidosis, hereditary Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy with lactic acidosis, hereditary phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe X-linked myotubular myopathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, actin, congenital, with excess of thin myofilaments Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, actin, congenital, with excess of thin myofilaments phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Distal myopathy Markesbery-Griggs type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Distal myopathy Markesbery-Griggs type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, congenital, with excess of muscle spindles Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, congenital, with excess of muscle spindles phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, distal, 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, distal, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nemaline myopathy 2, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hereditary myopathy with early respiratory failure Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hereditary myopathy with early respiratory failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
X-linked myopathy with postural muscle atrophy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the X-linked myopathy with postural muscle atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Neutral lipid storage disease with myopathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Neutral lipid storage disease with myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nemaline myopathy 10 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, congenital, compton-north Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, congenital, compton-north phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
X-linked dominant scapuloperoneal myopathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the X-linked dominant scapuloperoneal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myofibrillar myopathy 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myofibrillar myopathy 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Brody myopathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Brody myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nemaline myopathy 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nemaline myopathy 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nemaline myopathy 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nemaline myopathy 8 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, centronuclear, 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, centronuclear, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive centronuclear myopathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive centronuclear myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, reducing body, X-linked, childhood-onset Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, reducing body, X-linked, childhood-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, distal, 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, distal, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, distal, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, distal, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Miyoshi myopathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Miyoshi myopathy 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.
Polyglucosan body myopathy, early-onset, with or without immunodeficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Polyglucosan body myopathy, early-onset, with or without immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES Gene Set From ClinVar Gene-Phenotype Associations genes associated with the MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy with tubular aggregates Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy with tubular aggregates phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital myopathy with fiber type disproportion Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital myopathy with fiber type disproportion phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
MYOPATHY, CENTRONUCLEAR, 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, CENTRONUCLEAR, 2 from the curated CTD Gene-Disease Associations dataset.
MYOPATHY, CENTRONUCLEAR, 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, CENTRONUCLEAR, 1 from the curated CTD Gene-Disease Associations dataset.
Myopathy, Central Core Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Central Core from the curated CTD Gene-Disease Associations dataset.
Bethlem myopathy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Bethlem myopathy from the curated CTD Gene-Disease Associations dataset.
Myopathy, Reducing Body, X-Linked, Childhood-Onset Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Reducing Body, X-Linked, Childhood-Onset from the curated CTD Gene-Disease Associations dataset.
Myopathy, Distal, with Anterior Tibial Onset Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Distal, with Anterior Tibial Onset from the curated CTD Gene-Disease Associations dataset.
Miyoshi myopathy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Miyoshi myopathy from the curated CTD Gene-Disease Associations dataset.
Welander distal myopathy, Swedish type Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Welander distal myopathy, Swedish type from the curated CTD Gene-Disease Associations dataset.
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia from the curated CTD Gene-Disease Associations dataset.
MYOPATHY, MYOFIBRILLAR, 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, MYOFIBRILLAR, 1 from the curated CTD Gene-Disease Associations dataset.
MYOPATHY, MYOFIBRILLAR, 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, MYOFIBRILLAR, 4 from the curated CTD Gene-Disease Associations dataset.
MYOPATHY, MYOFIBRILLAR, 6 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, MYOFIBRILLAR, 6 from the curated CTD Gene-Disease Associations dataset.
Nemaline myopathy 6 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline myopathy 6 from the curated CTD Gene-Disease Associations dataset.
Myopathy with lactic acidosis and sideroblastic anemia Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy with lactic acidosis and sideroblastic anemia from the curated CTD Gene-Disease Associations dataset.
Nemaline myopathy 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline myopathy 1 from the curated CTD Gene-Disease Associations dataset.
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION from the curated CTD Gene-Disease Associations dataset.
Nemaline myopathy 5 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline myopathy 5 from the curated CTD Gene-Disease Associations dataset.
Visceral Myopathy, Familial Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Visceral Myopathy, Familial from the curated CTD Gene-Disease Associations dataset.
Scapuloperoneal Myopathy, X-Linked Dominant Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Scapuloperoneal Myopathy, X-Linked Dominant from the curated CTD Gene-Disease Associations dataset.
Myopathy, Hyaline Body, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Hyaline Body, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Myopathy, Congenital, Compton-North Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Congenital, Compton-North from the curated CTD Gene-Disease Associations dataset.
Myopathy, X-Linked, With Postural Muscle Atrophy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, X-Linked, With Postural Muscle Atrophy from the curated CTD Gene-Disease Associations dataset.
SCAPULOPERONEAL MYOPATHY, MYH7-RELATED Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease SCAPULOPERONEAL MYOPATHY, MYH7-RELATED from the curated CTD Gene-Disease Associations dataset.
Neutral Lipid Storage Disease with Myopathy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Neutral Lipid Storage Disease with Myopathy from the curated CTD Gene-Disease Associations dataset.
Distal myopathy, Nonaka type Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Distal myopathy, Nonaka type from the curated CTD Gene-Disease Associations dataset.
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked from the curated CTD Gene-Disease Associations dataset.
Hereditary Myopathy with Early Respiratory Failure Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Myopathy with Early Respiratory Failure from the curated CTD Gene-Disease Associations dataset.
MYOPATHY, SPHEROID BODY Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, SPHEROID BODY from the curated CTD Gene-Disease Associations dataset.
Minicore Myopathy with External Ophthalmoplegia Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Minicore Myopathy with External Ophthalmoplegia from the curated CTD Gene-Disease Associations dataset.
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay from the curated CTD Gene-Disease Associations dataset.
Myopathy, X-Linked, with Excessive Autophagy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, X-Linked, with Excessive Autophagy from the curated CTD Gene-Disease Associations dataset.
Myopathy with Lactic Acidosis, Hereditary Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy with Lactic Acidosis, Hereditary from the curated CTD Gene-Disease Associations dataset.
MYOPATHY, CENTRONUCLEAR, X-LINKED Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, CENTRONUCLEAR, X-LINKED from the curated CTD Gene-Disease Associations dataset.
Myopathy, Myosin Storage Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Myosin Storage from the curated CTD Gene-Disease Associations dataset.
Nemaline myopathy 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline myopathy 3 from the curated CTD Gene-Disease Associations dataset.
Nemaline myopathy 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline myopathy 4 from the curated CTD Gene-Disease Associations dataset.
Nemaline Myopathy 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline Myopathy 2 from the curated CTD Gene-Disease Associations dataset.
Inclusion Body Myopathy 3, Autosomal Dominant Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Inclusion Body Myopathy 3, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.
Myopathy, Early-Onset, with Fatal Cardiomyopathy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Early-Onset, with Fatal Cardiomyopathy from the curated CTD Gene-Disease Associations dataset.
Inclusion body myopathy autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Inclusion body myopathy autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Brody myopathy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Brody myopathy from the curated CTD Gene-Disease Associations dataset.
Nemaline Myopathy 7 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline Myopathy 7 from the curated CTD Gene-Disease Associations dataset.
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Reducing Body, X-Linked, Early-Onset, Severe from the curated CTD Gene-Disease Associations dataset.
mitochondrial myopathy Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease mitochondrial myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
brody myopathy Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease brody myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
bethlem myopathy Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease bethlem myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
myopathy Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
nemaline myopathy Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease nemaline myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
central core myopathy Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease central core myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
congenital structural myopathy Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital structural myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
centronuclear myopathy Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease centronuclear myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
myopathy of extraocular muscle Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease myopathy of extraocular muscle from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
myopathy Gene Set From DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease myopathy in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
congenital structural myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital structural myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
central core myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease central core myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
brody myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease brody myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
myopathy of extraocular muscle Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease myopathy of extraocular muscle in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
mitochondrial myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
bethlem myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease bethlem myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
x-linked myopathy with excessive autophagy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease x-linked myopathy with excessive autophagy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
centronuclear myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease centronuclear myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
nemaline myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease nemaline myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
adult onset multi/minicore myopathy Gene Set From GAD Gene-Disease Associations genes associated with the disease adult onset multi/minicore myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
variable myopathy Gene Set From GAD Gene-Disease Associations genes associated with the disease variable myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
mild myotubular myopathy Gene Set From GAD Gene-Disease Associations genes associated with the disease mild myotubular myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
inherited myopathy Gene Set From GAD Gene-Disease Associations genes associated with the disease inherited myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
mitochondrial myopathy Gene Set From GAD Gene-Disease Associations genes associated with the disease mitochondrial myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
nemaline myopathy Gene Set From GAD Gene-Disease Associations genes associated with the disease nemaline myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
myopathy, idiopathic inflammatory Gene Set From GAD Gene-Disease Associations genes associated with the disease myopathy, idiopathic inflammatory in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
myopathy Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term myopathy in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
MELAS - Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes_Muscle - Striated (Skeletal) (MMHCC)_GSE1462 Gene Set From GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during MELAS - Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes_Muscle - Striated (Skeletal) (MMHCC)_GSE1462 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
myopathy Gene Set From GWASdb SNP-Disease Associations genes associated with the disease myopathy in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.
scapuloperoneal myopathy Gene Set From HPO Gene-Disease Associations genes associated with the scapuloperoneal myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
myofibrillar myopathy Gene Set From HPO Gene-Disease Associations genes associated with the myofibrillar myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
mitochondrial myopathy Gene Set From HPO Gene-Disease Associations genes associated with the mitochondrial myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
skeletal myopathy Gene Set From HPO Gene-Disease Associations genes associated with the skeletal myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
myopathy Gene Set From HPO Gene-Disease Associations genes associated with the myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
minicore (multicore) myopathy Gene Set From HPO Gene-Disease Associations genes associated with the minicore (multicore) myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
myopathy Gene Set From MPO Gene-Phenotype Associations gene mutations causing the myopathy phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
nemaline myopathy 6, autosomal dominant Gene Set From OMIM Gene-Disease Associations genes associated with the nemaline myopathy 6, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, spheroid body Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, spheroid body phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy with extrapyramidal signs Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy with extrapyramidal signs phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, myofibrillar, 2 Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, early-onset, with fatal cardiomyopathy Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, early-onset, with fatal cardiomyopathy phenotype from the curated OMIM Gene-Disease Associations dataset.
inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1 Gene Set From OMIM Gene-Disease Associations genes associated with the inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, distal, 4 Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, distal, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset.
centronuclear myopathy 5 Gene Set From OMIM Gene-Disease Associations genes associated with the centronuclear myopathy 5 phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, myosin storage Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, myosin storage phenotype from the curated OMIM Gene-Disease Associations dataset.
native american myopathy Gene Set From OMIM Gene-Disease Associations genes associated with the native american myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.
inclusion body myopathy, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the inclusion body myopathy, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, areflexia, respiratory distress, and dysphagia, early-onset phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, x-linked, with postural muscle atrophy Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, x-linked, with postural muscle atrophy phenotype from the curated OMIM Gene-Disease Associations dataset.
nemaline myopathy 1, autosomal dominant or recessive Gene Set From OMIM Gene-Disease Associations genes associated with the nemaline myopathy 1, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 Gene Set From OMIM Gene-Disease Associations genes associated with the ?inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, tubular aggregate Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, tubular aggregate phenotype from the curated OMIM Gene-Disease Associations dataset.
epiphyseal dysplasia, multiple, with myopathy Gene Set From OMIM Gene-Disease Associations genes associated with the epiphyseal dysplasia, multiple, with myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.
poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis Gene Set From OMIM Gene-Disease Associations genes associated with the poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis phenotype from the curated OMIM Gene-Disease Associations dataset.
nemaline myopathy 8, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the nemaline myopathy 8, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
nemaline myopathy 4, autosomal dominant Gene Set From OMIM Gene-Disease Associations genes associated with the nemaline myopathy 4, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.
brody myopathy Gene Set From OMIM Gene-Disease Associations genes associated with the brody myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.
neutral lipid storage disease with myopathy Gene Set From OMIM Gene-Disease Associations genes associated with the neutral lipid storage disease with myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, myofibrillar, 6 Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, 6 phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, actin, congenital, with cores Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, actin, congenital, with cores 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.
myopathy, congenital, with fiber-type disproportion, x-linked Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, congenital, with fiber-type disproportion, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.
?myopathy, congenital, compton-north Gene Set From OMIM Gene-Disease Associations genes associated with the ?myopathy, congenital, compton-north phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy with lactic acidosis, hereditary Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy with lactic acidosis, hereditary phenotype from the curated OMIM Gene-Disease Associations dataset.
nemaline myopathy 5, amish type Gene Set From OMIM Gene-Disease Associations genes associated with the nemaline myopathy 5, amish type phenotype from the curated OMIM Gene-Disease Associations dataset.
?inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 3 Gene Set From OMIM Gene-Disease Associations genes associated with the ?inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, reducing body, x-linked, childhood-onset Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, reducing body, x-linked, childhood-onset phenotype from the curated OMIM Gene-Disease Associations dataset.
congenital myopathy with excess of muscle spindles Gene Set From OMIM Gene-Disease Associations genes associated with the congenital myopathy with excess of muscle spindles phenotype from the curated OMIM Gene-Disease Associations dataset.
welander distal myopathy Gene Set From OMIM Gene-Disease Associations genes associated with the welander distal myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.
ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Gene Set From OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss phenotype from the curated OMIM Gene-Disease Associations dataset.
bethlem myopathy Gene Set From OMIM Gene-Disease Associations genes associated with the bethlem myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, centronuclear, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, centronuclear, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, distal 3 Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, distal 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, proximal, with early respiratory muscle involvement Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, proximal, with early respiratory muscle involvement phenotype from the curated OMIM Gene-Disease Associations dataset.
laing distal myopathy Gene Set From OMIM Gene-Disease Associations genes associated with the laing distal myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.
polyglucosan body myopathy, early-onset, with or without immunodeficiency Gene Set From OMIM Gene-Disease Associations genes associated with the polyglucosan body myopathy, early-onset, with or without immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, congenital, with fiber-type disproportion 1 Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, congenital, with fiber-type disproportion 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
?myopathy, tubular aggregate, 2 Gene Set From OMIM Gene-Disease Associations genes associated with the ?myopathy, tubular aggregate, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
scapuloperoneal myopathy, x-linked dominant Gene Set From OMIM Gene-Disease Associations genes associated with the scapuloperoneal myopathy, x-linked dominant phenotype from the curated OMIM Gene-Disease Associations dataset.
nemaline myopathy 7, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the nemaline myopathy 7, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
mitochondrial myopathy and sideroblastic anemia 1 Gene Set From OMIM Gene-Disease Associations genes associated with the mitochondrial myopathy and sideroblastic anemia 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
myotubular myopathy, x-linked Gene Set From OMIM Gene-Disease Associations genes associated with the myotubular myopathy, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.
nemaline myopathy 3, autosomal dominant or recessive Gene Set From OMIM Gene-Disease Associations genes associated with the nemaline myopathy 3, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, myofibrillar, 1 Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, myofibrillar, 3 Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, myofibrillar, 4 Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, myofibrillar, 5 Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, lactic acidosis, and sideroblastic anemia 2 Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
minicore myopathy with external ophthalmoplegia Gene Set From OMIM Gene-Disease Associations genes associated with the minicore myopathy with external ophthalmoplegia phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, distal, with anterior tibial onset Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, distal, with anterior tibial onset phenotype from the curated OMIM Gene-Disease Associations dataset.
cap myopathy 2 Gene Set From OMIM Gene-Disease Associations genes associated with the cap myopathy 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
cap myopathy 1 Gene Set From OMIM Gene-Disease Associations genes associated with the cap myopathy 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
{centronuclear myopathy, autosomal, modifier of} Gene Set From OMIM Gene-Disease Associations genes associated with the {centronuclear myopathy, autosomal, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, congenital, with fiber-type disproportion Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, congenital, with fiber-type disproportion phenotype from the curated OMIM Gene-Disease Associations dataset.
inclusion body myopathy-3 Gene Set From OMIM Gene-Disease Associations genes associated with the inclusion body myopathy-3 phenotype from the curated OMIM Gene-Disease Associations dataset.
nemaline myopathy 9 Gene Set From OMIM Gene-Disease Associations genes associated with the nemaline myopathy 9 phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, centronuclear, 3 Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, centronuclear, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, centronuclear, 4 Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, centronuclear, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, centronuclear Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, centronuclear phenotype from the curated OMIM Gene-Disease Associations dataset.
?peripheral neuropathy, myopathy, hoarseness, and hearing loss Gene Set From OMIM Gene-Disease Associations genes associated with the ?peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, reducing body, x-linked, severe early-onset Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, reducing body, x-linked, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset.
nemaline myopathy 2, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the nemaline myopathy 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
nonaka myopathy Gene Set From OMIM Gene-Disease Associations genes associated with the nonaka myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, distal, tateyama type Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, distal, tateyama type phenotype from the curated OMIM Gene-Disease Associations dataset.
visceral myopathy Gene Set From OMIM Gene-Disease Associations genes associated with the visceral myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, actin, congenital, with excess of thin myofilaments Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, actin, congenital, with excess of thin myofilaments phenotype from the curated OMIM Gene-Disease Associations dataset.
nemaline myopathy 10 Gene Set From OMIM Gene-Disease Associations genes associated with the nemaline myopathy 10 phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy Gene Set From PhosphoSitePlus Phosphosite-Disease Associations proteins associated with the disease myopathy from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset.
Inclusion Body Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Inclusion Body Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Neutral Lipid Storage Disease With Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Neutral Lipid Storage Disease With Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Central Core Myopathy (Disorder) Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Central Core Myopathy (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Centronuclear Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Centronuclear Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
X-Linked Centronuclear Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease X-Linked Centronuclear Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Actin-Accumulation Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Actin-Accumulation Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Dominant Myotubular Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Dominant Myotubular Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Centronuclear Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Centronuclear Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cap Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cap Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Congenital Structural Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Congenital Structural Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Intranuclear Rod Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Intranuclear Rod Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Myofibrillar Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Myofibrillar Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Nemaline Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Nemaline Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Nonaka Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Nonaka Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Scapuloperoneal Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Scapuloperoneal Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Secondary Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Secondary Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Tubular Aggregate Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Tubular Aggregate Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Vacuolar Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Vacuolar Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Zebra Body Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Zebra Body Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Visceral Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Visceral Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Visceral Myopathy, Familial Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Visceral Myopathy, Familial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Miyoshi Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Miyoshi Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Bethlem Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Bethlem Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Minicore Myopathy With External Ophthalmoplegia (Disorder) Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Minicore Myopathy With External Ophthalmoplegia (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Multi-Core Congenital Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Multi-Core Congenital Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Scapuloperoneal Myopathy, X-Linked Dominant Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Scapuloperoneal Myopathy, X-Linked Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Sarcoid Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Sarcoid Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Alcohol Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Alcohol Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Brody Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Brody Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mitochondrial Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Myotubular (Centronuclear) Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Myotubular (Centronuclear) Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Axial Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Axial Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Critical Illness Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Critical Illness Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Welander Distal Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Welander Distal Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Necrotizing Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Necrotizing Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Proximal Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Proximal Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Proximal Myopathy With Focal Depletion Of Mitochondria Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Proximal Myopathy With Focal Depletion Of Mitochondria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Epiphyseal Dysplasia, Multiple, With Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Epiphyseal Dysplasia, Multiple, With Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autoimmune Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autoimmune Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Benign Congenital Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Benign Congenital Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Reducing-Body Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Reducing-Body Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hereditary Myopathy With Early Respiratory Failure Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hereditary Myopathy With Early Respiratory Failure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Native American Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Native American Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Oculopharyngodistal Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Oculopharyngodistal Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Limb-Girdle Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Limb-Girdle Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Polyglucosan Body Myopathy 2 Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Polyglucosan Body Myopathy 2 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Klhl9-Related Early-Onset Distal Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Klhl9-Related Early-Onset Distal Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Myotubular Myopathy With Abnormal Genital Development Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Myotubular Myopathy With Abnormal Genital Development in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Distal Myopathy 1 Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Distal Myopathy 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Inflammatory Myopathy With Abundant Macrophages Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Inflammatory Myopathy With Abundant Macrophages in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Inclusion Body Myopathy, Autosomal Dominant Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Inclusion Body Myopathy, Autosomal Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Spheroid Body Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Spheroid Body Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mitochondrial Myopathy With Lactic Acidosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Myopathy With Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Polyglucosan Body Myopathy Type 1 Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Polyglucosan Body Myopathy Type 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Benign Samaritan Congenital Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Benign Samaritan Congenital Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Congenital Myopathy With Myasthenic-Like Onset Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Congenital Myopathy With Myasthenic-Like Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Desmin Related Myopathy With Mallory Body-Like Inclusions Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Desmin Related Myopathy With Mallory Body-Like Inclusions in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cap Myopathy 2 Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cap Myopathy 2 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cap Myopathy, Tpm2-Related Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cap Myopathy, Tpm2-Related in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cap Myopathy, Tpm3-Related (Disorder) Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cap Myopathy, Tpm3-Related (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Myopathy Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
myopathy Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the myopathy phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
Myopathy Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Nemaline myopathy Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Nemaline myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Congenital myopathy Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Mitochondrial myopathy Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Mitochondrial myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Myofibrillar myopathy Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Myofibrillar myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
GNE myopathy Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease GNE myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Congenital structural myopathy Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital structural myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Centronuclear myopathy Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Centronuclear myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Distal myopathy Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Distal myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Congenital myopathy 4A Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital myopathy 4A from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Myofibrillar myopathy 9 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Myofibrillar myopathy 9 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Congenital myopathy 5 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital myopathy 5 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Native American myopathy Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Native American myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Inclusion body myopathy with Paget disease of bone and frontotemporal dementia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Hyaline body myopathy Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Hyaline body myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Distal myopathy 1 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Distal myopathy 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Brody myopathy Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Brody myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Congenital myopathy 1B Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital myopathy 1B from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Nemaline myopathy 3 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Nemaline myopathy 3 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Congenital myopathy 1A Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital myopathy 1A from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Centronuclear myopathy X-linked Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Centronuclear myopathy X-linked from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Myopathy Gene Set From DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Myopathy in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
Myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Mitochondrial myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Nemaline myopathy 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Inclusion body myopathy with Paget disease of bone and frontotemporal dementia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Distal myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Distal myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Congenital myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Myofibrillar myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Centronuclear myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Congenital structural myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital structural myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
GNE myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease GNE myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Centronuclear myopathy X-linked Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy X-linked in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Myofibrillar myopathy 6 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Myofibrillar myopathy 2 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Myofibrillar myopathy 5 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Myofibrillar myopathy 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Oculopharyngodistal myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Oculopharyngodistal myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Fatal infantile hypertonic myofibrillar myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Fatal infantile hypertonic myofibrillar myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Myofibrillar myopathy 3 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Congenital myopathy 5 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Distal myopathy with rimmed vacuoles Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Distal myopathy with rimmed vacuoles in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Myofibrillar myopathy 9 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Nemaline myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
X-linked myopathy with excessive autophagy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked myopathy with excessive autophagy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Congenital myopathy 1A Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 1A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Bethlem myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Bethlem myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant centronuclear myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant centronuclear myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Distal myopathy with anterior tibial onset Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Distal myopathy with anterior tibial onset in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Compton-North congenital myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Compton-North congenital myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Scapuloperoneal myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Scapuloperoneal myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Distal myopathy 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Distal myopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Hyaline body myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hyaline body myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Congenital myopathy 1B Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 1B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
myopathy, lactic acidosis, and sideroblastic anemia 2 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease myopathy, lactic acidosis, and sideroblastic anemia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
myopathy, lactic acidosis, and sideroblastic anemia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease myopathy, lactic acidosis, and sideroblastic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Centronuclear myopathy 6 with fiber-type disproportion Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy 6 with fiber-type disproportion in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Brody myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Brody myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Cylindrical spirals myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cylindrical spirals myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Nemaline myopathy 9 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Congenital myopathy 4A Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 4A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Nemaline myopathy 11 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Nemaline myopathy 10 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Myopathy with extrapyramidal signs Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myopathy with extrapyramidal signs in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive centronuclear myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive centronuclear myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Centronuclear myopathy 4 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Isolated mitochondrial myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Isolated mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Nemaline myopathy 5A Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 5A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Nemaline myopathy 2 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Myofibrillar myopathy 8 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Myofibrillar myopathy 7 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Centronuclear myopathy 5 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Distal myopathy 3 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Distal myopathy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Native American myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Native American myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
myopathy, lactic acidosis, and sideroblastic anemia 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease myopathy, lactic acidosis, and sideroblastic anemia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Nemaline myopathy 6 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Centronuclear myopathy 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Centronuclear myopathy 2 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Oculopharyngodistal myopathy 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Oculopharyngodistal myopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Myofibrillar myopathy 4 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Nemaline myopathy 8 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Distal myopathy 4 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Distal myopathy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Myopathy of extraocular muscle Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myopathy of extraocular muscle in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Congenital myopathy 22A Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 22A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Tubular aggregate myopathy 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Tubular aggregate myopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Nemaline myopathy 4 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Nemaline myopathy 7 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant hyaline body myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant hyaline body myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Nemaline myopathy 3 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Congenital myopathy 6 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Congenital myopathy 22B Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 22B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive hyaline body myopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive hyaline body myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Myopathy caused by variation in F Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Myopathy caused by variation in F phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
SELENON-related myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the SELENON-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Myofibrillar myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Myofibrillar myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Centronuclear myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Centronuclear myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Distal myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Distal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
SCN4A-related myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the SCN4A-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
GNE myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the GNE myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal dominant centronuclear myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant centronuclear myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe X-linked myotubular myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Sarcotubular myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Sarcotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Inclusion body myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Inclusion body myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
X-linked myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
TPM3-related core myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the TPM3-related core myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Nemaline myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Nemaline myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Central core myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Central core myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital multicore myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital multicore myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
RYR1-related myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the RYR1-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
MYH7-related skeletal myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the MYH7-related skeletal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Myosin storage myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Myosin storage myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Visceral myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Visceral myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Desmin-related myofibrillar myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Desmin-related myofibrillar myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Bethlem myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Bethlem myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Collagen 6-related myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Collagen 6-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Batten-Turner congenital myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Batten-Turner congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Brody myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Brody myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Inborn mitochondrial myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Inborn mitochondrial myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Actin accumulation myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Actin accumulation myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital myopathy 2b Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital myopathy 2b phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital myopathy 2c Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital myopathy 2c phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Progressive scapulohumeroperoneal distal myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive scapulohumeroperoneal distal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital myopathy 10b Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital myopathy 10b phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
MEGF10-related myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the MEGF10-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
MYPN-related myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the MYPN-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Neutral lipid storage myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Neutral lipid storage myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Welander distal myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Welander distal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Fatal infantile hypertonic myofibrillar myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Fatal infantile hypertonic myofibrillar myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Scapuloperoneal myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Scapuloperoneal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Intellectual disability and myopathy syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability and myopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Early-onset myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Early-onset myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
TTN-related myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the TTN-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Myopathy caused by variation in POMG Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Myopathy caused by variation in POMG phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Bailey-Bloch congenital myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Bailey-Bloch congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Metabolic myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Metabolic myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Multiminicore myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Multiminicore myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Miyoshi myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Miyoshi myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Myopathy caused by variation in PO Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Myopathy caused by variation in PO phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Proximal myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Proximal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Compton-North congenital myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Compton-North congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hereditary inclusion-body myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary inclusion-body myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Polyglucosan body myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Polyglucosan body myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal dominant mitochondrial myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant mitochondrial myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
HNRNPDL-related myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the HNRNPDL-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Axial myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Axial myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
SGCG-related congenital myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the SGCG-related congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mitochondrial myopathy-lactic acidosis-deafness syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitochondrial myopathy-lactic acidosis-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hereditary myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
CAP-congenital myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the CAP-congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
ACTA1 gene related myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the ACTA1 gene related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mitochondrial myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitochondrial myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital nonprogressive myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital nonprogressive myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyaline body myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyaline body myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
TPM2-related cap myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the TPM2-related cap myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
MYH2-related myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the MYH2-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Inclusion body myopathy and brain white matter abnormalities Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Inclusion body myopathy and brain white matter abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital structural myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital structural myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Childhood-onset autosomal recessive myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Childhood-onset autosomal recessive myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Skeletal myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Skeletal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
TPM2-related myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the TPM2-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal recessive centronuclear myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive centronuclear myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Familial idiopathic inflammatory myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial idiopathic inflammatory myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
COL6A2-related core myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the COL6A2-related core myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Finnish upper limb-onset distal myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Finnish upper limb-onset distal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
SPEG-related congenital myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the SPEG-related congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
IDUA-related core myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the IDUA-related core myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Oculopharyngodistal myopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Oculopharyngodistal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Simvastatin-induced myopathy Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Simvastatin-induced myopathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Atorvastatin-induced myopathy Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Atorvastatin-induced myopathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Statin-induced myopathy (severe) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Statin-induced myopathy (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Statin-induced myopathy Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Statin-induced myopathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Idiopathic inflammatory myopathy Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Idiopathic inflammatory myopathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 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.
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.
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.
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-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.
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.
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.
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.
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.
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.
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.
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.
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.
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 1 from the curated CTD Gene-Disease Associations dataset.
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 2 from the curated CTD Gene-Disease Associations dataset.
thrombocytopenia due to platelet alloimmunization Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease thrombocytopenia due to platelet alloimmunization in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
pneumoconiosis due to talc Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease pneumoconiosis due to talc in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
hereditary spastic paraparesis due to a frame shift mutat Gene Set From GAD Gene-Disease Associations genes associated with the disease hereditary spastic paraparesis due to a frame shift mutat in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
depressed suicide; suicide due to depression Gene Set From GAD Gene-Disease Associations genes associated with the disease depressed suicide; suicide due to depression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
due Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term due in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
anemia due to reduced life span of red cells Gene Set From GWASdb SNP-Phenotype Associations genes associated with the anemia due to reduced life span of red cells phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.
decreased cervical spine flexion due to contractures of posterior cervical muscles Gene Set From HPO Gene-Disease Associations genes associated with the decreased cervical spine flexion due to contractures of posterior cervical muscles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
anemia due to reduced life span of red cells Gene Set From HPO Gene-Disease Associations genes associated with the anemia due to reduced life span of red cells phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
restricted neck movement due to contractures Gene Set From HPO Gene-Disease Associations genes associated with the restricted neck movement due to contractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
chronic rhinitis due to narrow nasal airway Gene Set From HPO Gene-Disease Associations genes associated with the chronic rhinitis due to narrow nasal airway phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
osteomyelitis due to immunodeficiency Gene Set From HPO Gene-Disease Associations genes associated with the osteomyelitis due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) Gene Set From HPO Gene-Disease Associations genes associated with the osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
bowing of limbs due to multiple fractures Gene Set From HPO Gene-Disease Associations genes associated with the bowing of limbs due to multiple fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
respiratory insufficiency due to muscle weakness Gene Set From HPO Gene-Disease Associations genes associated with the respiratory insufficiency due to muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
osteomyelitis leading to amputation due to slow healing fractures Gene Set From HPO Gene-Disease Associations genes associated with the osteomyelitis leading to amputation due to slow healing fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
weakness due to upper motor neuron dysfunction Gene Set From HPO Gene-Disease Associations genes associated with the weakness due to upper motor neuron dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
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.
{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 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
{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.
{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.
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.
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.
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.
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.
{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.
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.
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.
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.
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.
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.
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.
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.
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.
Disease Due To Acanthocephala Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Disease Due To Acanthocephala in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Fast Acetylator Due To N-Acetyltransferase Enzyme Variant Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Fast Acetylator Due To N-Acetyltransferase Enzyme Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Respiratory Insufficiency Due To Defective Ciliary Clearance Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Respiratory Insufficiency Due To Defective Ciliary Clearance in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Orthostatic Hypotension Due To Autonomic Dysfunction Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Orthostatic Hypotension Due To Autonomic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Osteomyelitis Leading To Amputation Due To Slow Healing Fractures Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Osteomyelitis Leading To Amputation Due To Slow Healing Fractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Chromosomal Mosaicism Due To Mitotic Instability Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Chromosomal Mosaicism Due To Mitotic Instability in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Weakness Due To Upper Motor Neuron Dysfunction Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Weakness Due To Upper Motor Neuron Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Cephalhematoma Due To Birth Trauma Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cephalhematoma Due To Birth Trauma in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Generalized Hypotonia Due To Defect At The Neuromuscular Junction Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Generalized Hypotonia Due To Defect At The Neuromuscular Junction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Bowing Of Limbs Due To Multiple Fractures Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Bowing Of Limbs Due To Multiple Fractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Restricted Neck Movement Due To Contractures Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Restricted Neck Movement Due To Contractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Decreased Cervical Spine Flexion Due To Contractures Of Posterior Cervical Muscles Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Decreased Cervical Spine Flexion Due To Contractures Of Posterior Cervical Muscles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Painless Fractures Due To Injury Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Painless Fractures Due To Injury in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Decreased Sweating Due To Autonomic Dysfunction Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Decreased Sweating Due To Autonomic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Acanthocytosis Due To Band 3 Ht Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Acanthocytosis Due To Band 3 Ht in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Self-Mutilation Of Tongue And Lips Due To Involuntary Movements Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Self-Mutilation Of Tongue And Lips Due To Involuntary Movements in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Apoptosis related network due to altered Notch3 in ovarian cancer Gene Set From WikiPathways Pathways 2024 proteins participating in the Apoptosis related network due to altered Notch3 in ovarian cancer pathway from the WikiPathways Pathways 2024 dataset.
Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects Gene Set From Reactome Pathways 2024 proteins participating in the Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects pathway from the Reactome Pathways 2024 dataset.
Aberrant regulation of mitotic 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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 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.

Harmonizome 3.0

OPHLC Gene

PSHK2 Gene

SM2 Gene

CFTDX Gene

MHB Gene

WDM Gene

MPD3 Gene

myopathy due to cpt ii deficiency Gene Set

cpt ii deficiency, lethal neonatal Gene Set

cpt deficiency, hepatic, type ii Gene Set

cpt deficiency, hepatic, type ia Gene Set

myopathy due to myoadenylate deaminase deficiency Gene Set

Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency Gene Set

cpt Gene Set

Rp-8-CPT-cGMPS Gene Set

CPT Gene Set

Acyltransferase ChoActase/COT/CPT Gene Set

BRD-A81936046_8-CPT-2-Me-cAMP_SW620_6.0_h_10.0_um Gene Set

BRD-A81936046_8-CPT-2-Me-cAMP_SW480_6.0_h_10.0_um Gene Set

RP-8-CPT-CGMPS Gene Set

Sulfite oxidase deficiency due to molybdenum cofactor deficiency Gene Set

Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation Gene Set

Metabolic myopathy due to lactate transporter defect Gene Set

Myopathy due to calsequestrin and SERCA1 protein overload Gene Set

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

factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene Set

antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene Set

activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene Set

Trifunctional protein deficiency with myopathy and neuropathy Gene Set

Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene Set

Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene Set

COX deficiency, infantile mitochondrial myopathy Gene Set

COX deficiency, benign infantile mitochondrial myopathy Gene Set

Carbonic anhydrase va deficiency, hyperammonemia due to Gene Set

SCID due to ADA deficiency, delayed onset Gene Set

Thrombophilia due to protein S deficiency, autosomal recessive Gene Set

Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Gene Set

Severe combined immunodeficiency due to ADA deficiency Gene Set

Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to Gene Set

HNSHA due to aldolase A deficiency Gene Set

Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant Gene Set

Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene Set

Gaucher disease, atypical, due to saposin C deficiency Gene Set

Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene Set

Hemolytic anemia due to hexokinase deficiency Gene Set

Leigh syndrome due to mitochondrial complex I deficiency Gene Set

Homocysteinemia due to MTHFR deficiency Gene Set

Immunodeficiency due to ficolin 3 deficiency Gene Set

Hypermethioninemia due to adenosine kinase deficiency Gene Set

Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Gene Set

Muscular dystrophy, congenital, due to ITGA7 deficiency Gene Set

Homocystinuria due to MTHFR deficiency Gene Set

Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene Set

Leigh syndrome due to mitochondrial complex II deficiency Gene Set

Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Gene Set

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

Megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

Obesity, severe, due to leptin deficiency Gene Set

Adenylate kinase deficiency, hemolytic anemia due to Gene Set

Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene Set

Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Gene Set

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene Set

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Gene Set

Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene Set

Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene Set

Congenital thrombotic disease, due to Protein C deficiency Gene Set

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene Set

Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set

Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene Set

THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene Set

Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene Set

Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set

Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene Set

Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to Gene Set

Krabbe Disease, Atypical, due to Saposin A Deficiency Gene Set

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Gene Set

Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene Set

Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to Gene Set

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set