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azoospermia; chromosome deletion; infertility, male; oligospermia; sex chromosome aberrations; sex chromosome disorders of sex development Gene SetFrom GAD Gene-Disease Associations genes associated with the disease azoospermia; chromosome deletion; infertility, male; oligospermia; sex chromosome aberrations; sex chromosome disorders of sex development in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Sex Chromosome Disorders of Sex Development Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Sex Chromosome Disorders of Sex Development phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Schizophrenia, bipolar disorder or major depressive disorder x sex interaction Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Schizophrenia, bipolar disorder or major depressive disorder x sex interaction phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Schizophrenia, bipolar disorder or major depressive disorder x sex interaction (3df) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Schizophrenia, bipolar disorder or major depressive disorder x sex interaction (3df) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Schizophrenia, bipolar disorder or recurrent major depressive disorder x sex interaction Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Schizophrenia, bipolar disorder or recurrent major depressive disorder x sex interaction phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Glycogen storage disorder due to hepatic glycogen synthase deficiency Gene SetFrom 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. |
Autism spectrum disorder due to AUTS2 deficiency Gene SetFrom 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. |
Neurometabolic disorder due to serine deficiency Gene SetFrom 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. |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency Gene SetFrom 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. |
schizophrenia; depressive disorder, major; bipolar disorder; delusional disorder; psychosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease schizophrenia; depressive disorder, major; bipolar disorder; delusional disorder; psychosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anxiety disorder; depressive disorder, major; panic disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anxiety disorder; depressive disorder, major; panic disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
attention deficit disorder; conduct disorder; oppositional defiant disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease attention deficit disorder; conduct disorder; oppositional defiant disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
conduct disorder; oppositional defiant disorder; antisocial personality disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease conduct disorder; oppositional defiant disorder; antisocial personality disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer's disease; attention deficit disorder; conduct disorder; oppositional defiant disorder; dementia, frontotemporal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer's disease; attention deficit disorder; conduct disorder; oppositional defiant disorder; dementia, frontotemporal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN Gene SetFrom 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. |
Recurrent major depressive disorder x sex interaction Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Recurrent major depressive disorder x sex interaction phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Major depressive disorder x sex interaction Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Major depressive disorder x sex interaction phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Bipolar disorder x sex interaction Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Bipolar disorder x sex interaction phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
46, XY Disorders of Sex Development Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 46, XY Disorders of Sex Development from the curated CTD Gene-Disease Associations dataset. |
46, XX Disorders of Sex Development Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 46, XX Disorders of Sex Development from the curated CTD Gene-Disease Associations dataset. |
Disorders of Sex Development Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Disorders of Sex Development from the curated CTD Gene-Disease Associations dataset. |
46, xx disorders of sex development; pof - premature ovarian failure; primary ovarian insufficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease 46, xx disorders of sex development; pof - premature ovarian failure; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
46, XY Disorders of Sex Development Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the 46, XY Disorders of Sex Development phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
46, XX Disorders of Sex Development Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the 46, XX Disorders of Sex Development phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Disorders of Sex Development Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Disorders of Sex Development phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
46, Xx Disorders Of Sex Development Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 46, Xx Disorders Of Sex Development in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ovotesticular Differences Of Sex Development Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ovotesticular Differences Of Sex Development in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ovotesticular Disorders Of Sex Development Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ovotesticular Disorders Of Sex Development in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
46, Xy Disorders Of Sex Development Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 46, Xy Disorders Of Sex Development in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene SetFrom 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 SetFrom 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 SetFrom 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. |
bleeding disorder due to p2rx1 defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the bleeding disorder due to p2rx1 defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
Dementia Due To Alzheimer'S Disease (Disorder) Gene SetFrom 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. |
Eye Disorder Due To Diabetes Mellitus Gene SetFrom 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. |
Peroxisome biogenesis disorder due to PEX1 defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Peroxisome biogenesis disorder due to PEX1 defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Male infertility due to gonadal dysgenesis or sperm disorder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Male infertility due to gonadal dysgenesis or sperm disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Carbonic anhydrase va deficiency, hyperammonemia due to Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Obesity, severe, due to leptin deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Severe combined immunodeficiency due to adenosine deaminase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the nephropathy due to cfhr5 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to protein s deficiency, autosomal dominant Gene SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the ?isolated growth hormone deficiency due to defect in ghrf phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to heparin cofactor ii deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to adenylate kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
emphysema due to aat deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the hypermethioninemia due to adenosine kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
leigh syndrome due to cytochrome c oxidase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to hexokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy due to cpt ii deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy due to cpt ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
emphysema-cirrhosis, due to aat deficiency Gene SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the ?male infertility due to acrosin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy due to myoadenylate deaminase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy due to myoadenylate deaminase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) Gene Setproteins 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Antibody Deficiency Due To Defect In Cd19 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Krabbe Disease, Atypical, Due To Saposin A Deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Autosomal recessive ataxia due to ubiquinone deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Combined immunodeficiency due to partial RAG1 deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to HNF1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Encephalopathy due to GLUT1 deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Limb-girdle muscular dystrophy due to POMK deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Pyogenic bacterial infections due to MyD88 deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to HNF4A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Immunodeficiency due to purine nucleoside phosphorylase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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. |
bipolar disorder; affective disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bipolar disorder; affective disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
depressive disorder, major; bipolar disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease depressive disorder, major; bipolar disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bipolar disorder; unipolar disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bipolar disorder; unipolar disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
schizophrenia; alcoholism; attention deficit disorder; depression; neuroticism; affective disorder; suicidal behavior Gene SetFrom GAD Gene-Disease Associations genes associated with the disease schizophrenia; alcoholism; attention deficit disorder; depression; neuroticism; affective disorder; suicidal behavior in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
schizoaffective disorder; alcoholism; bipolar disorder; suicide Gene SetFrom GAD Gene-Disease Associations genes associated with the disease schizoaffective disorder; alcoholism; bipolar disorder; suicide in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
attention deficit hyperactivity disorder and conduct disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease attention deficit hyperactivity disorder and conduct disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bipolar affective disorder; unipolar affective disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bipolar affective disorder; unipolar affective disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
conduct disorder; hyperkinetic disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease conduct disorder; hyperkinetic disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
major depressive disorder and panic disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease major depressive disorder and panic disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
antisocial personality disorder attention deficit hyperactivity disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease antisocial personality disorder attention deficit hyperactivity disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
schizophrenia; bipolar disorder; affective disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease schizophrenia; bipolar disorder; affective disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
schizophrenia; alcohol abuse; depressive disorder, major; dermal erythema; schizoaffective disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease schizophrenia; alcohol abuse; depressive disorder, major; dermal erythema; schizoaffective disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
seasonal affective disorder; premenstrual dysphoric disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease seasonal affective disorder; premenstrual dysphoric disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
attention deficit disorder; seasonal affective disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease attention deficit disorder; seasonal affective disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
depressive disorder, major; bipolar disorder; affective psychoses Gene SetFrom GAD Gene-Disease Associations genes associated with the disease depressive disorder, major; bipolar disorder; affective psychoses in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
schizophrenia; schizoaffective disorder; bipolar disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease schizophrenia; schizoaffective disorder; bipolar disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
depressive disorder, major; bipolar disorder; suicide Gene SetFrom GAD Gene-Disease Associations genes associated with the disease depressive disorder, major; bipolar disorder; suicide in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
schizophrenia; depressive disorder, major; bipolar disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease schizophrenia; depressive disorder, major; bipolar disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alcohol dependence, panic disorder without agoraphobia, generalized anxiety disorder, narcolepsy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alcohol dependence, panic disorder without agoraphobia, generalized anxiety disorder, narcolepsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anxiety disorder; depressive disorder, major; neuroticism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anxiety disorder; depressive disorder, major; neuroticism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
schizophrenia; schizoaffective disorder; affective disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease schizophrenia; schizoaffective disorder; affective disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
attention deficit disorder; conduct disorder; aggressive behavior Gene SetFrom GAD Gene-Disease Associations genes associated with the disease attention deficit disorder; conduct disorder; aggressive behavior in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Schizophrenia, schizoaffective disorder or bipolar disorder Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Schizophrenia, schizoaffective disorder or bipolar disorder phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Functional impairment in major depressive disorder, bipolar disorder and schizophrenia Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Functional impairment in major depressive disorder, bipolar disorder and schizophrenia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Attention deficit hyperactivity disorder and conduct disorder Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Attention deficit hyperactivity disorder and conduct disorder phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Bipolar disorder and major depressive disorder (combined) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Bipolar disorder and major depressive disorder (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Bipolar disorder (age of onset <21) or attention deficit hyperactivity disorder Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Bipolar disorder (age of onset <21) or attention deficit hyperactivity disorder phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Bipolar disorder or attention deficit hyperactivity disorder Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Bipolar disorder or attention deficit hyperactivity disorder phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Oppositional defiant disorder dimensions in attention-deficit hyperactivity disorder Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Oppositional defiant disorder dimensions in attention-deficit hyperactivity disorder phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Eating disorder in bipolar disorder Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Eating disorder in bipolar disorder phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Bipolar disorder and eating disorder Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Bipolar disorder and eating disorder phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
HIV-associated neurocognitive disorder (mild neurocognitive disorder or asymptomatic neurocognitive impairment) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the HIV-associated neurocognitive disorder (mild neurocognitive disorder or asymptomatic neurocognitive impairment) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
HIV-associated neurocognitive disorder (mild neurocognitive disorder) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the HIV-associated neurocognitive disorder (mild neurocognitive disorder) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Functional impairment in major depressive disorder, bipolar disorder and schizophrenia Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Functional impairment in major depressive disorder, bipolar disorder and schizophrenia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Schizophrenia, schizoaffective disorder or bipolar disorder Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Schizophrenia, schizoaffective disorder or bipolar disorder phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Disruptive behavior disorder and attention deficit hyperactivity disorder Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Disruptive behavior disorder and attention deficit hyperactivity disorder phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Attention deficit hyperactivity disorder and conduct disorder Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Attention deficit hyperactivity disorder and conduct disorder phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Bipolar disorder or major depressive disorder Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Bipolar disorder or major depressive disorder phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Obsessive-compulsive disorder or autism spectrum disorder Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Obsessive-compulsive disorder or autism spectrum disorder phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Schizophrenia, bipolar disorder or major depressive disorder Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Schizophrenia, bipolar disorder or major depressive disorder phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Schizophrenia, bipolar disorder or recurrent major depressive disorder Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Schizophrenia, bipolar disorder or recurrent major depressive disorder phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Tooth Development And Eruption Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Tooth Development And Eruption Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mammalian disorder of sexual development Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Mammalian disorder of sexual development pathway from the WikiPathways Pathways 2024 dataset. |
Disorder of sexual development Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Disorder of sexual development from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Disorder of sexual development Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Disorder of sexual development in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Disorder of development or morphogenesis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Disorder of development or morphogenesis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
46,XY sex reversal 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 46,XY sex reversal 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
46,XY sex reversal 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 46,XY sex reversal 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
46,XY sex reversal, type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 46,XY sex reversal, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
46,XY sex reversal, type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 46,XY sex reversal, type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
46,XY sex reversal, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 46,XY sex reversal, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
sex chromosome Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the sex chromosome cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
sex chromatin Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the sex chromatin cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
sex chromosome Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the sex chromosome cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
sex chromatin Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the sex chromatin cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
46, XY Sex Reversal 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 46, XY Sex Reversal 5 from the curated CTD Gene-Disease Associations dataset. |
46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS from the curated CTD Gene-Disease Associations dataset. |
46,XY SEX REVERSAL 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 46,XY SEX REVERSAL 1 from the curated CTD Gene-Disease Associations dataset. |
PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL from the curated CTD Gene-Disease Associations dataset. |
46,XX SEX REVERSAL 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 46,XX SEX REVERSAL 1 from the curated CTD Gene-Disease Associations dataset. |
Dosage-sensitive sex reversal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dosage-sensitive sex reversal from the curated CTD Gene-Disease Associations dataset. |
Sex Hormone-Binding Globulin Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Sex Hormone-Binding Globulin in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
sex differentiation disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease sex differentiation disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
sex differentiation disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease sex differentiation disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
sex cord-stromal neoplasm Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease sex cord-stromal neoplasm in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
sex cord-gonadal stromal tumor Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease sex cord-gonadal stromal tumor in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
mixed germ cell-sex cord neoplasm Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mixed germ cell-sex cord neoplasm in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infertility, male; sex chromosome aberrations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infertility, male; sex chromosome aberrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
azoospermia; chromosome deletion; infertility, male; oligospermia; sex chromosome aberrations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease azoospermia; chromosome deletion; infertility, male; oligospermia; sex chromosome aberrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes, type 2; sex hormones Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes, type 2; sex hormones in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diseases in twins; sex chromosome aberrations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diseases in twins; sex chromosome aberrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sex steroid hormone-binding globulin Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sex steroid hormone-binding globulin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sex hormone-binding globulin Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sex hormone-binding globulin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal diseases; nondisjunction, genetic; sex chromosome aberrations; trisomy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal diseases; nondisjunction, genetic; sex chromosome aberrations; trisomy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sex-dependent growth Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sex-dependent growth in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
estradiol; sex hormone binding globulin Gene SetFrom GAD Gene-Disease Associations genes associated with the disease estradiol; sex hormone binding globulin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
testosterone; epitestosterone; follicle stimulating homone; luteinizing homone; sex horomone binding globulin Gene SetFrom GAD Gene-Disease Associations genes associated with the disease testosterone; epitestosterone; follicle stimulating homone; luteinizing homone; sex horomone binding globulin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
colitis, ulcerative; crohn disease; genetic diseases, x-linked; sex chromosome aberrations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease colitis, ulcerative; crohn disease; genetic diseases, x-linked; sex chromosome aberrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sex steroid hormone blood levels Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sex steroid hormone blood levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body mass; insulin; polycystic ovary syndrome; hormone disturbance; sex hormones Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body mass; insulin; polycystic ovary syndrome; hormone disturbance; sex hormones in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sex hormones Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sex hormones in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infertility, male; oligospermia; sex chromosome aberrations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infertility, male; oligospermia; sex chromosome aberrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sex Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term sex in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
sex determination Gene SetFrom GO Biological Process Annotations 2015 genes participating in the sex determination biological process from the curated GO Biological Process Annotations 2015 dataset. |
male germ-line sex determination Gene SetFrom GO Biological Process Annotations 2015 genes participating in the male germ-line sex determination biological process from the curated GO Biological Process Annotations 2015 dataset. |
female somatic sex determination Gene SetFrom GO Biological Process Annotations 2015 genes participating in the female somatic sex determination biological process from the curated GO Biological Process Annotations 2015 dataset. |
primary sex determination, germ-line Gene SetFrom GO Biological Process Annotations 2015 genes participating in the primary sex determination, germ-line biological process from the curated GO Biological Process Annotations 2015 dataset. |
male sex differentiation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the male sex differentiation biological process from the curated GO Biological Process Annotations 2015 dataset. |
germ-line sex determination Gene SetFrom GO Biological Process Annotations 2015 genes participating in the germ-line sex determination biological process from the curated GO Biological Process Annotations 2015 dataset. |
male sex determination Gene SetFrom GO Biological Process Annotations 2015 genes participating in the male sex determination biological process from the curated GO Biological Process Annotations 2015 dataset. |
sex differentiation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the sex differentiation biological process from the curated GO Biological Process Annotations 2015 dataset. |
primary sex determination Gene SetFrom GO Biological Process Annotations 2015 genes participating in the primary sex determination biological process from the curated GO Biological Process Annotations 2015 dataset. |
somatic sex determination Gene SetFrom GO Biological Process Annotations 2015 genes participating in the somatic sex determination biological process from the curated GO Biological Process Annotations 2015 dataset. |
female sex determination Gene SetFrom GO Biological Process Annotations 2015 genes participating in the female sex determination biological process from the curated GO Biological Process Annotations 2015 dataset. |
sex chromosome Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the sex chromosome cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
sex chromatin Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the sex chromatin cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
Sex hormone-binding globulin levels Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Sex hormone-binding globulin levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Asthma (sex interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Asthma (sex interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
gonadal tissue inappropriate for external genitalia or chromosomal sex Gene SetFrom HPO Gene-Disease Associations genes associated with the gonadal tissue inappropriate for external genitalia or chromosomal sex phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
sex-limited autosomal dominant Gene SetFrom HPO Gene-Disease Associations genes associated with the sex-limited autosomal dominant phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
absence of secondary sex characteristics Gene SetFrom HPO Gene-Disease Associations genes associated with the absence of secondary sex characteristics phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal sex determination Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal sex determination phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
sex reversal Gene SetFrom HPO Gene-Disease Associations genes associated with the sex reversal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Sex Chromosome Aberrations Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Sex Chromosome Aberrations phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Sex Cord-Gonadal Stromal Tumors Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Sex Cord-Gonadal Stromal Tumors phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
abnormal primary sex determination Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal primary sex determination phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal sex gland physiology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal sex gland physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
secondary sex reversal Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the secondary sex reversal phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal sex gland secretion Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal sex gland secretion phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal sex gland morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal sex gland morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
primary sex reversal Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the primary sex reversal phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal male accessory sex gland morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal male accessory sex gland morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal sex determination Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal sex determination phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
sex reversal Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the sex reversal phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal secondary sex determination Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal secondary sex determination phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
absent sex gland Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the absent sex gland phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
46xy sex reversal 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the 46xy sex reversal 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
46xy sex reversal 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the 46xy sex reversal 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
46xy sex reversal 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the 46xy sex reversal 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
46xy sex reversal 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the 46xy sex reversal 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
46xy sex reversal 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the 46xy sex reversal 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
46xy sex reversal 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the 46xy sex reversal 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
46,xy sex reversal 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the 46,xy sex reversal 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
[sex hormone-binding blobulin circulating level qtl 1] Gene SetFrom OMIM Gene-Disease Associations genes associated with the [sex hormone-binding blobulin circulating level qtl 1] phenotype from the curated OMIM Gene-Disease Associations dataset. |
palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal Gene SetFrom OMIM Gene-Disease Associations genes associated with the palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal phenotype from the curated OMIM Gene-Disease Associations dataset. |
46xx sex reversal 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the 46xx sex reversal 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
46xx sex reversal 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the 46xx sex reversal 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete Gene SetFrom OMIM Gene-Disease Associations genes associated with the adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete phenotype from the curated OMIM Gene-Disease Associations dataset. |
46xy sex reversal 2, dosage-sensitive Gene SetFrom OMIM Gene-Disease Associations genes associated with the 46xy sex reversal 2, dosage-sensitive phenotype from the curated OMIM Gene-Disease Associations dataset. |
campomelic dysplasia with autosomal sex reversal Gene SetFrom OMIM Gene-Disease Associations genes associated with the campomelic dysplasia with autosomal sex reversal phenotype from the curated OMIM Gene-Disease Associations dataset. |
46xx sex reversal 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the 46xx sex reversal 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{46xy sex reversal 8, modifier of} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {46xy sex reversal 8, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset. |
Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) Gene Setproteins participating in the Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) pathway from the Reactome Pathways dataset. |
accessory sex gland Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue accessory sex gland in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
Dosage-Sensitive Sex Reversal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dosage-Sensitive Sex Reversal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sex Cord-Stromal Tumor Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sex Cord-Stromal Tumor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
46, Xy Sex Reversal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 46, Xy Sex Reversal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Uterine Tumor Resembling Ovarian Sex Cord Tumor Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Uterine Tumor Resembling Ovarian Sex Cord Tumor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abnormal Sex Determination Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abnormal Sex Determination in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Testicular Mixed Germ Cell-Sex Cord-Stromal Tumor, Unclassified Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Testicular Mixed Germ Cell-Sex Cord-Stromal Tumor, Unclassified in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
46, Xx Sex Reversal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 46, Xx Sex Reversal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Malignant Ovarian Sex Cord-Stromal Tumor Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Malignant Ovarian Sex Cord-Stromal Tumor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And Sex Reversal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And Sex Reversal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Campomelic Dysplasia With Autosomal Sex Reversal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Campomelic Dysplasia With Autosomal Sex Reversal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sex Reversal Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Sex Reversal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absence Of Secondary Sex Characteristics Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absence Of Secondary Sex Characteristics in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Sex Hormone Binding Globulin Measurement Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Sex Hormone Binding Globulin Measurement in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Gonadal Tissue Inappropriate For External Genitalia Or Chromosomal Sex Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Gonadal Tissue Inappropriate For External Genitalia Or Chromosomal Sex in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
male germ-line sex determination Gene SetFrom GO Biological Process Annotations 2023 genes participating in the male germ-line sex determination biological process from the curated GO Biological Process Annotations 2023 dataset. |
primary sex determination, germ-line Gene SetFrom GO Biological Process Annotations 2023 genes participating in the primary sex determination, germ-line biological process from the curated GO Biological Process Annotations 2023 dataset. |
sex chromatin Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the sex chromatin cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
inactive sex chromosome Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the inactive sex chromosome cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
sex chromosome Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the sex chromosome cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
abnormal secondary sex determination Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal secondary sex determination phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
secondary sex reversal Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the secondary sex reversal phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal primary sex determination Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal primary sex determination phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
primary sex reversal Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the primary sex reversal phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
sex reversal Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the sex reversal phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal sex gland morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal sex gland morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal sex gland secretion Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal sex gland secretion phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal sex gland physiology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal sex gland physiology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal sex determination Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal sex determination phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal male accessory sex gland morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal male accessory sex gland morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Somatic sex determination Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Somatic sex determination pathway from the WikiPathways Pathways 2024 dataset. |
sex-chromosome dosage compensation Gene SetFrom GO Biological Process Annotations 2025 genes participating in the sex-chromosome dosage compensation biological process from the curated GO Biological Process Annotations 2025 dataset. |
male germ-line sex determination Gene SetFrom GO Biological Process Annotations 2025 genes participating in the male germ-line sex determination biological process from the curated GO Biological Process Annotations 2025 dataset. |
primary sex determination, germ-line Gene SetFrom GO Biological Process Annotations 2025 genes participating in the primary sex determination, germ-line biological process from the curated GO Biological Process Annotations 2025 dataset. |
sex chromatin Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the sex chromatin cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
inactive sex chromosome Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the inactive sex chromosome cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
sex chromosome Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the sex chromosome cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
46,XX sex reversal Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease 46,XX sex reversal from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
46,XY sex reversal Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease 46,XY sex reversal from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
46,XX sex reversal Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease 46,XX sex reversal in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
46,XY sex reversal Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease 46,XY sex reversal in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
46,XY sex reversal 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease 46,XY sex reversal 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Sex cord-gonadal stromal tumor Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Sex cord-gonadal stromal tumor in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mixed germ cell-sex cord neoplasm Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mixed germ cell-sex cord neoplasm in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ovarian sex-cord stromal tumor Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ovarian sex-cord stromal tumor in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
46,XY sex reversal 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease 46,XY sex reversal 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
46,XY sex reversal 10 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease 46,XY sex reversal 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
46,XY sex reversal 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease 46,XY sex reversal 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
46,XY sex reversal 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease 46,XY sex reversal 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
46,XX sex reversal 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease 46,XX sex reversal 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Testicular sex cord-stromal neoplasm Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Testicular sex cord-stromal neoplasm in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
46,XY sex reversal 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease 46,XY sex reversal 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
46,XY sex reversal 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease 46,XY sex reversal 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
46,XY sex reversal 9 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease 46,XY sex reversal 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
46,XY sex reversal 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease 46,XY sex reversal 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Accessory sex gland Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Accessory sex gland in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Inactive sex chromosome Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Inactive sex chromosome cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Sex chromatin Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Sex chromatin cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Sex chromatin Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Sex chromatin cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Inactive sex chromosome Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Inactive sex chromosome cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Active sex chromosome Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Active sex chromosome cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Sex cord-stromal tumor Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Sex cord-stromal tumor phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Sex hormone levels Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sex hormone levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sex ratio Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sex ratio phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Circulating leptin levels x sex interaction in high cardiovascular risk Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Circulating leptin levels x sex interaction in high cardiovascular risk phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Serum polyunsaturated fatty acid concentration x sex interaction in metabolic syndrome Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Serum polyunsaturated fatty acid concentration x sex interaction in metabolic syndrome phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Asthma (sex interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Asthma (sex interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sex hormone-binding globulin levels Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sex hormone-binding globulin levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Carotid artery intima media thickness (sex interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Carotid artery intima media thickness (sex interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Aggressive periodontitis (sex interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Aggressive periodontitis (sex interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Nonsyndromic cleft lip with or without cleft palate x sex interaction (2df test) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Nonsyndromic cleft lip with or without cleft palate x sex interaction (2df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Barrett's esophagus or esophageal adenocarcinoma x sex interaction (1df test) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Barrett's esophagus or esophageal adenocarcinoma x sex interaction (1df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Barrett's esophagus or esophageal adenocarcinoma x sex interaction (2df test) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Barrett's esophagus or esophageal adenocarcinoma x sex interaction (2df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Serum bilirubin levels x sex interaction in metabolic syndrome Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Serum bilirubin levels x sex interaction in metabolic syndrome phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Renal cell carcinoma x sex interaction Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Renal cell carcinoma x sex interaction phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Body mass index x sex x age interaction (4df test) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Body mass index x sex x age interaction (4df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Waist-to-hip ratio adjusted for BMI x sex interaction Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Waist-to-hip ratio adjusted for BMI x sex interaction phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Subcutaneous adipose tissue (sex interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Subcutaneous adipose tissue (sex interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cerebral amyloid angiopathy x sex interaction in Alzheimer’s disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cerebral amyloid angiopathy x sex interaction in Alzheimer’s disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Schizophrenia x sex interaction Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Schizophrenia x sex interaction phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency from the curated CTD Gene-Disease Associations dataset. |
disorder of muscle, unspec; lipidoses; lipoidosis; multiple acyl coenzyme a dehydrogenase deficiency; muscular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease disorder of muscle, unspec; lipidoses; lipoidosis; multiple acyl coenzyme a dehydrogenase deficiency; muscular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
Deficiency Of Acetyl-Coa Acyltransferase (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Deficiency Of Acetyl-Coa Acyltransferase (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Endplate Acetylcholinesterase Deficiency (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Endplate Acetylcholinesterase Deficiency (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sodium Deficiency (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sodium Deficiency (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adrenocorticotropic Hormone (Acth) Deficiency (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adrenocorticotropic Hormone (Acth) Deficiency (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Potassium Deficiency Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Potassium Deficiency Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hepatic Lipase Deficiency (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Lipase Deficiency (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Apolipoprotein C-Ii Deficiency (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Apolipoprotein C-Ii Deficiency (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Igg Deficiency Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Igg Deficiency Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Isolated Lutropin Deficiency (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Isolated Lutropin Deficiency (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Heparin Cofactor Ii Deficiency (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Heparin Cofactor Ii Deficiency (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Deficiency Of Hexokinase (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Deficiency Of Hexokinase (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Deficiency Of Iodide Peroxidase (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Deficiency Of Iodide Peroxidase (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital NAD deficiency disorder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital NAD deficiency disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
cardiac neural crest cell development involved in heart development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the cardiac neural crest cell development involved in heart development biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of vasculature development involved in avascular cornea development in camera-type eye Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of vasculature development involved in avascular cornea development in camera-type eye biological process from the curated GO Biological Process Annotations 2023 dataset. |
cardiac neural crest cell development involved in heart development Gene SetFrom GO Biological Process Annotations 2023 genes participating in the cardiac neural crest cell development involved in heart development biological process from the curated GO Biological Process Annotations 2023 dataset. |
Mammary gland development pathway Embryonic development Stage 1 of 4 Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Mammary gland development pathway Embryonic development Stage 1 of 4 pathway from the WikiPathways Pathways 2024 dataset. |
negative regulation of vasculature development involved in avascular cornea development in camera-type eye Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of vasculature development involved in avascular cornea development in camera-type eye biological process from the curated GO Biological Process Annotations 2025 dataset. |
cardiac neural crest cell development involved in heart development Gene SetFrom GO Biological Process Annotations 2025 genes participating in the cardiac neural crest cell development involved in heart development biological process from the curated GO Biological Process Annotations 2025 dataset. |
Neuraminidase deficiency with beta-galactosidase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins participating in the Defective HK1 causes hexokinase deficiency (HK deficiency) pathway from the Reactome Pathways 2024 dataset. |
Megaloblastic anemia due to inborn errors of metabolism Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency due to defect in cd3-zeta phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia, X-Linked, Due To Factor Ix Defect Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thrombophilia, X-Linked, Due To Factor Ix Defect from the curated CTD Gene-Disease Associations dataset. |
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type from the curated CTD Gene-Disease Associations dataset. |
METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT from the curated CTD Gene-Disease Associations dataset. |
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immunodeficiency due to Defect in CD3-Zeta from the curated CTD Gene-Disease Associations dataset. |
Immunodeficiency due to Defect in MAPBP-Interacting Protein Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immunodeficiency due to Defect in MAPBP-Interacting Protein from the curated CTD Gene-Disease Associations dataset. |
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 1 from the curated CTD Gene-Disease Associations dataset. |
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 2 from the curated CTD Gene-Disease Associations dataset. |
thrombocytopenia due to platelet alloimmunization Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom HPO Gene-Disease Associations genes associated with the generalized hypotonia due to defect at the neuromuscular junction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
chronic hepatitis due to cryptospridium infection Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to thrombomodulin defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
encephalopahty, lethal, due to defective mitochondrial peroxisomal fission Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the {hypercholesterolemia, familial, due to ldlr defect, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{drug-induced liver injury due to flucloxacillin} Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the rickets due to defect in vitamin d 25-hydroxylation phenotype from the curated OMIM Gene-Disease Associations dataset. |
methylmalonic aciduria due to transcobalamin receptor defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria due to transcobalamin receptor defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia, x-linked, due to factor ix defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia, x-linked, due to factor ix defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
{thrombophilia, susceptibility to, due to factor v leiden} Gene SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency due to defect in mapbp-interacting protein phenotype from the curated OMIM Gene-Disease Associations dataset. |
goiter, familial, due to ttf-1 defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the goiter, familial, due to ttf-1 defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to thrombin defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to thrombin defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperfibrinolysis, familial, due to increased release of plat Gene SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type phenotype from the curated OMIM Gene-Disease Associations dataset. |
Apoptosis-related network due to altered Notch3 in ovarian cancer(Homo sapiens) Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Whooping Cough Due To Unspecified Organism Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Ketoacidosis Due To Acute Alcohol Intoxication Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Disease Due To Acanthocephala Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Rhinitis Due To Narrow Nasal Airway in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation Gene SetFrom 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. |
Polycythemia Due To Erythropoietin Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Generalized Hypotonia Due To Defect At The Neuromuscular Junction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Bowing Of Limbs Due To Multiple Fractures Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombophilia due to thrombin defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Multiple epiphyseal dysplasia due to collagen 9 anomaly Gene SetFrom 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 SetFrom 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 SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked thrombophilia due to factor IX defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Thrombophilia due to thrombomodulin defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombophilia due to thrombomodulin defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Thrombophilia due to activated protein C resistance Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Thrombophilia due to thrombin defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Thrombophilia due to thrombin defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hepatoencephalopathy due to combined oxidative phosphorylation defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hepatoencephalopathy due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Fatal mitochondrial disease due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial hyperthyroidism due to mutations in TSH receptor Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lissencephaly due to TUBA1A mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Alagille syndrome due to a JAG1 point mutation Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital muscular dystrophy due to LMNA mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Primary familial polycythemia due to EPO receptor mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Primary familial polycythemia due to EPO receptor mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Growth delay due to insulin-like growth factor I resistance Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Growth delay due to insulin-like growth factor I resistance phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature due to growth hormone qualitative anomaly Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature due to growth hormone qualitative anomaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disease due to SLC37A4 mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to SLC37A4 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Metabolic myopathy due to lactate transporter defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Metabolic myopathy due to lactate transporter defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Alagille syndrome due to a NOTCH2 point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Alagille syndrome due to a NOTCH2 point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Methylmalonic acidemia due to transcobalamin receptor defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic acidemia due to transcobalamin receptor defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neurofibromatosis due to NF1 mutation or intragenic deletion Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neurofibromatosis due to NF1 mutation or intragenic deletion phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
DeSanto-Shinawi syndrome due to WAC point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the DeSanto-Shinawi syndrome due to WAC point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Immunodeficiency due to defect in CD3-gamma Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to defect in CD3-gamma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to erythrocyte adenosine deaminase overproduction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Encephalopathy due to defective mitochondrial and peroxisomal fission Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Encephalopathy due to defective mitochondrial and peroxisomal fission phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Beckwith-Wiedemann syndrome due to CDKN1C mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Beckwith-Wiedemann syndrome due to CDKN1C mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myopathy due to calsequestrin and SERCA1 protein overload Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myopathy due to calsequestrin and SERCA1 protein overload phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SIN3A-related intellectual disability syndrome due to a point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SIN3A-related intellectual disability syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lactic aciduria due to D-lactic acid Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lactic aciduria due to D-lactic acid phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Kleefstra syndrome due to a point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Kleefstra syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pancytopenia due to IKZF1 mutations Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pancytopenia due to IKZF1 mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hao-Fountain syndrome due to USP7 mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hao-Fountain syndrome due to USP7 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive retinal dystrophy due to retinol transport defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive retinal dystrophy due to retinol transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary thrombophilia due to congenital histidine-rich Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary thrombophilia due to congenital histidine-rich phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Juvenile arthritis due to defect in LA Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Juvenile arthritis due to defect in LA phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked acrogigantism due to Xq26 microduplication Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked acrogigantism due to Xq26 microduplication phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Female infertility due to zona pellucida defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Female infertility due to zona pellucida defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Peroxisome biogenesis disorder 9B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peroxisome biogenesis disorder 9B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peroxisome biogenesis disorder 3A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peroxisome biogenesis disorder 3A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ataxia-telangiectasia-like disorder Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ataxia-telangiectasia-like disorder phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peroxisome biogenesis disorder 8B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peroxisome biogenesis disorder 8B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peroxisome biogenesis disorder 8A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peroxisome biogenesis disorder 8A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peroxisome biogenesis disorder 7B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peroxisome biogenesis disorder 7B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peroxisome biogenesis disorder 7A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peroxisome biogenesis disorder 7A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rett's disorder Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rett's disorder phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nijmegen breakage syndrome-like disorder Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nijmegen breakage syndrome-like disorder phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Platelet-type bleeding disorder 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Platelet-type bleeding disorder 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Platelet-type bleeding disorder 15 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Platelet-type bleeding disorder 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Platelet-type bleeding disorder 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Platelet-type bleeding disorder 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Platelet-type bleeding disorder 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Platelet-type bleeding disorder 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1s Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1s phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1L Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1L phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2J Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2J phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2L Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2L phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2k Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2k phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1Q Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1Q phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1P Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1P phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1H Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1H phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1N Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1N phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1v Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1v phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ataxia-telangiectasia-like disorder 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ataxia-telangiectasia-like disorder 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peroxisome biogenesis disorder 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peroxisome biogenesis disorder 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial platelet disorder with associated myeloid malignancy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial platelet disorder with associated myeloid malignancy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Focal epilepsy with speech disorder with or without mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Focal epilepsy with speech disorder with or without mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type Ix Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type Ix phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peroxisome biogenesis disorder 4B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peroxisome biogenesis disorder 4B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peroxisome biogenesis disorder 5A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peroxisome biogenesis disorder 5A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peroxisome biogenesis disorder 5B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peroxisome biogenesis disorder 5B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1K Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1K phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1J Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1J phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1O Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1O phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1E Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1E phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1G Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1G phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1y Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1y phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1u Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1u phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1t Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1t phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peroxisome biogenesis disorder 11A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peroxisome biogenesis disorder 11A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peroxisome biogenesis disorder 11B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peroxisome biogenesis disorder 11B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bleeding disorder, platelet-type, 19 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bleeding disorder, platelet-type, 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bleeding disorder, platelet-type, 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bleeding disorder, platelet-type, 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Otopalatodigital spectrum disorder Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Otopalatodigital spectrum disorder phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peroxisome biogenesis disorder 13A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peroxisome biogenesis disorder 13A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Speech-language disorder 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Speech-language disorder 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peroxisome biogenesis disorder 6A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peroxisome biogenesis disorder 6A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peroxisome biogenesis disorder 6B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peroxisome biogenesis disorder 6B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aortic valve disorder Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aortic valve disorder phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stereotypic Movement Disorder Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Stereotypic Movement Disorder from the curated CTD Gene-Disease Associations dataset. |
Tobacco Use Disorder Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Tobacco Use Disorder from the curated CTD Gene-Disease Associations dataset. |
Speech-Sound Disorder Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Speech-Sound Disorder from the curated CTD Gene-Disease Associations dataset. |
Platelet Disorder, Familial, with Associated Myeloid Malignancy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Platelet Disorder, Familial, with Associated Myeloid Malignancy from the curated CTD Gene-Disease Associations dataset. |
Orthostatic Hypotensive Disorder, Streeten Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Orthostatic Hypotensive Disorder, Streeten Type from the curated CTD Gene-Disease Associations dataset. |
Paroxysmal Extreme Pain Disorder Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Paroxysmal Extreme Pain Disorder from the curated CTD Gene-Disease Associations dataset. |
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA from the curated CTD Gene-Disease Associations dataset. |
Autistic Disorder Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Autistic Disorder from the curated CTD Gene-Disease Associations dataset. |
Transient Myeloproliferative Disorder of Down Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Transient Myeloproliferative Disorder of Down Syndrome from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type IIF Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type IIF from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1A from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation, type 2C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation, type 2C from the curated CTD Gene-Disease Associations dataset. |
NOG-Related-Symphalangism Spectrum Disorder Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NOG-Related-Symphalangism Spectrum Disorder from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 2D Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 2D from the curated CTD Gene-Disease Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq from the curated CTD Gene-Disease Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi from the curated CTD Gene-Disease Associations dataset. |
Conduct Disorder Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Conduct Disorder from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1G Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1G from the curated CTD Gene-Disease Associations dataset. |
Pigmentary Disorder, Reticulate, with Systemic Manifestations Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pigmentary Disorder, Reticulate, with Systemic Manifestations from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder of Glycosylation, Type Io Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder of Glycosylation, Type Io from the curated CTD Gene-Disease Associations dataset. |
Bleeding Disorder, East Texas Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bleeding Disorder, East Texas Type from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type Im Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type Im from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type In Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type In from the curated CTD Gene-Disease Associations dataset. |
Bipolar Disorder Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bipolar Disorder from the curated CTD Gene-Disease Associations dataset. |
ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 from the curated CTD Gene-Disease Associations dataset. |
PEROXISOME BIOGENESIS DISORDER 2B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PEROXISOME BIOGENESIS DISORDER 2B from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1H Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1H from the curated CTD Gene-Disease Associations dataset. |
Major Affective Disorder 8 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Major Affective Disorder 8 from the curated CTD Gene-Disease Associations dataset. |
Major Affective Disorder 9 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Major Affective Disorder 9 from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1J Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1J from the curated CTD Gene-Disease Associations dataset. |
Obsessive-Compulsive Disorder Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Obsessive-Compulsive Disorder from the curated CTD Gene-Disease Associations dataset. |
Nijmegen Breakage Syndrome-Like Disorder Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nijmegen Breakage Syndrome-Like Disorder from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1B from the curated CTD Gene-Disease Associations dataset. |
REM Sleep Behavior Disorder Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease REM Sleep Behavior Disorder from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 2A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 2A from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 2E Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 2E from the curated CTD Gene-Disease Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip from the curated CTD Gene-Disease Associations dataset. |
Depressive Disorder, Major Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Depressive Disorder, Major from the curated CTD Gene-Disease Associations dataset. |
Antisocial Personality Disorder Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Antisocial Personality Disorder from the curated CTD Gene-Disease Associations dataset. |
Myeloproliferative Disorder, Chronic, with Eosinophilia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myeloproliferative Disorder, Chronic, with Eosinophilia from the curated CTD Gene-Disease Associations dataset. |
BLEEDING DISORDER, PLATELET-TYPE, 8 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease BLEEDING DISORDER, PLATELET-TYPE, 8 from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1F Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1F from the curated CTD Gene-Disease Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj from the curated CTD Gene-Disease Associations dataset. |
Major Depressive Disorder 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Major Depressive Disorder 1 from the curated CTD Gene-Disease Associations dataset. |
Major Depressive Disorder 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Major Depressive Disorder 2 from the curated CTD Gene-Disease Associations dataset. |
Major Affective Disorder 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Major Affective Disorder 4 from the curated CTD Gene-Disease Associations dataset. |
Attention Deficit Disorder with Hyperactivity Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Attention Deficit Disorder with Hyperactivity from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type II Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type II from the curated CTD Gene-Disease Associations dataset. |
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1K Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1K from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1L Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1L from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1C from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1E Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1E from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1D Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1D from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation, type 2G Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation, type 2G from the curated CTD Gene-Disease Associations dataset. |
Depressive Disorder Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Depressive Disorder from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type IIH Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type IIH from the curated CTD Gene-Disease Associations dataset. |
Major Affective Disorder 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Major Affective Disorder 2 from the curated CTD Gene-Disease Associations dataset. |
Major Affective Disorder 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Major Affective Disorder 3 from the curated CTD Gene-Disease Associations dataset. |
Major Affective Disorder 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Major Affective Disorder 1 from the curated CTD Gene-Disease Associations dataset. |
Major Affective Disorder 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Major Affective Disorder 6 from the curated CTD Gene-Disease Associations dataset. |
Major Affective Disorder 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Major Affective Disorder 7 from the curated CTD Gene-Disease Associations dataset. |
Major Affective Disorder 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Major Affective Disorder 5 from the curated CTD Gene-Disease Associations dataset. |
Panic Disorder Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Panic Disorder from the curated CTD Gene-Disease Associations dataset. |
SPEECH-LANGUAGE DISORDER 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SPEECH-LANGUAGE DISORDER 1 from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type IIB Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type IIB from the curated CTD Gene-Disease Associations dataset. |
Tobacco Use Disorder Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Tobacco Use Disorder in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Depressive Disorder, Major Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Depressive Disorder, Major in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Depressive Disorder Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Depressive Disorder in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Autistic Disorder Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Autistic Disorder in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Conduct Disorder Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Conduct Disorder in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Panic Disorder Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Panic Disorder in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Bipolar Disorder Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Bipolar Disorder in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Attention Deficit Disorder with Hyperactivity Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Attention Deficit Disorder with Hyperactivity in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
congenital disorder of glycosylation Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital disorder of glycosylation from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
carbohydrate metabolic disorder Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease carbohydrate metabolic disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
cognitive disorder Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease cognitive disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
metal metabolism disorder Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease metal metabolism disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
glycogen metabolism disorder Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease glycogen metabolism disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
urea cycle disorder Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease urea cycle disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
pervasive developmental disorder Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease pervasive developmental disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
physical disorder Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease physical disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
specific developmental disorder Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease specific developmental disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
gamma-amino butyric acid metabolism disorder Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease gamma-amino butyric acid metabolism disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
tic disorder Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease tic disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
purine-pyrimidine metabolic disorder Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease purine-pyrimidine metabolic disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
sleep disorder Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease sleep disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
bilirubin metabolic disorder Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease bilirubin metabolic disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
amino acid metabolic disorder Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease amino acid metabolic disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
inherited metabolic disorder Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease inherited metabolic disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
developmental disorder of mental health Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease developmental disorder of mental health from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
lipid metabolism disorder Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease lipid metabolism disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
psychotic disorder Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease psychotic disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
sexual disorder Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease sexual disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
cognitive disorder Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease cognitive disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
mood disorder Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease mood disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
conduct disorder Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease conduct disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
substance-related disorder Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease substance-related disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
physical disorder Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease physical disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
impulse control disorder Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease impulse control disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
specific developmental disorder Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease specific developmental disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
attention deficit hyperactivity disorder Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease attention deficit hyperactivity disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
inherited metabolic disorder Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease inherited metabolic disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
bipolar disorder Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease bipolar disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
panic disorder Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease panic disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
eating disorder Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease eating disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
tic disorder Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease tic disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
sleep disorder Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease sleep disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
autistic disorder Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease autistic disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
autism spectrum disorder Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease autism spectrum disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
developmental disorder of mental health Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease developmental disorder of mental health in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
lipid metabolism disorder Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease lipid metabolism disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
pervasive developmental disorder Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease pervasive developmental disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
personality disorder Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease personality disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
anxiety disorder Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease anxiety disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
stereotypic movement disorder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease stereotypic movement disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
bipolar disorder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease bipolar disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital disorder of glycosylation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital disorder of glycosylation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
body dysmorphic disorder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease body dysmorphic disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital disorder of glycosylation type ii Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital disorder of glycosylation type ii in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
somatization disorder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease somatization disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cyclothymic disorder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cyclothymic disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
paraphilia disorder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease paraphilia disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
tic disorder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease tic disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |