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Lymphedema, Microcephaly And Chorioretinopathy Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lymphedema, Microcephaly And Chorioretinopathy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly with or without chorioretinopathy, lymphedema, or mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Microcephaly and chorioretinopathy, autosomal recessive, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly and chorioretinopathy, autosomal recessive, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
microcephaly and chorioretinopathy, autosomal recessive, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly and chorioretinopathy, autosomal recessive, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly and chorioretinopathy, autosomal recessive, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly and chorioretinopathy, autosomal recessive, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Microcephaly and chorioretinopathy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Microcephaly and chorioretinopathy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Microcephaly and chorioretinopathy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Microcephaly and chorioretinopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Microcephaly and chorioretinopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Microcephaly and chorioretinopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive chorioretinopathy-microcephaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive chorioretinopathy-microcephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Microcephaly with chorioretinopathy, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly with chorioretinopathy, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
lymphedema-distichiasis syndrome with renal disease and diabetes mellitus Gene SetFrom OMIM Gene-Disease Associations genes associated with the lymphedema-distichiasis syndrome with renal disease and diabetes mellitus phenotype from the curated OMIM Gene-Disease Associations dataset. |
Lymphedema-Distichiasis Syndrome With Renal Disease And Diabetes Mellitus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lymphedema-Distichiasis Syndrome With Renal Disease And Diabetes Mellitus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia from the curated CTD Gene-Disease Associations dataset. |
microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, progressive, seizures, and cerebral and cerebellar atrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Microcephaly, epilepsy, and diabetes syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, epilepsy, and diabetes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, hiatal hernia and nephrotic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, hiatal hernia and nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
microcephaly, epilepsy, and diabetes syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, epilepsy, and diabetes syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema from the curated CTD Gene-Disease Associations dataset. |
CHOANAL ATRESIA AND LYMPHEDEMA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CHOANAL ATRESIA AND LYMPHEDEMA from the curated CTD Gene-Disease Associations dataset. |
ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
choanal atresia and lymphedema Gene SetFrom OMIM Gene-Disease Associations genes associated with the choanal atresia and lymphedema phenotype from the curated OMIM Gene-Disease Associations dataset. |
chorioretinopathy Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term chorioretinopathy in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Birdshot chorioretinopathy Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Birdshot chorioretinopathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
chorioretinopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the chorioretinopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Central Serous Chorioretinopathy Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Central Serous Chorioretinopathy phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Central Serous Chorioretinopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Central Serous Chorioretinopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chronic Central Serous Chorioretinopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Central Serous Chorioretinopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Central Serous Chorioretinopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Central Serous Chorioretinopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Birdshot Chorioretinopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Birdshot Chorioretinopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Birdshot chorioretinopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Birdshot chorioretinopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Birdshot chorioretinopathy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Birdshot chorioretinopathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Hennekam lymphangiectasia-lymphedema syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hennekam lymphangiectasia-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypotrichosis-lymphedema-telangiectasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypotrichosis-lymphedema-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Distichiasis-lymphedema syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Distichiasis-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hennekam lymphangiectasia-lymphedema syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hennekam lymphangiectasia-lymphedema syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lymphedema distichiasis syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lymphedema distichiasis syndrome from the curated CTD Gene-Disease Associations dataset. |
Hennekam lymphangiectasia lymphedema syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hennekam lymphangiectasia lymphedema syndrome from the curated CTD Gene-Disease Associations dataset. |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypotrichosis-Lymphedema-Telangiectasia Syndrome from the curated CTD Gene-Disease Associations dataset. |
hennekam lymphangiectasia-lymphedema syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hennekam lymphangiectasia-lymphedema syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hennekam lymphangiectasia-lymphedema syndrome 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hennekam lymphangiectasia-lymphedema syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypotrichosis-lymphedema-telangiectasia syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypotrichosis-lymphedema-telangiectasia syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
cholestasis-lymphedema syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the cholestasis-lymphedema syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
lymphedema-distichiasis syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the lymphedema-distichiasis syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
Hennekam Lymphangiectasia-Lymphedema Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hennekam Lymphangiectasia-Lymphedema Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hennekam Lymphatngiectasia-Lymphedema Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hennekam Lymphatngiectasia-Lymphedema Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lymphedema Distichiasis Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lymphedema Distichiasis Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
lymphedema-distichiasis syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease lymphedema-distichiasis syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
lymphedema-distichiasis syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease lymphedema-distichiasis syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
hypotrichosis-lymphedema-telangiectasia syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease hypotrichosis-lymphedema-telangiectasia syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease hypotrichosis-lymphedema-telangiectasia-renal defect syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hennekam lymphangiectasia-lymphedema syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hennekam lymphangiectasia-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Distichiasis-lymphedema syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Distichiasis-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Deafness-lymphedema-leukemia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Deafness-lymphedema-leukemia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hypotrichosis-lymphedema-telangiectasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypotrichosis-lymphedema-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lymphedema-posterior choanal atresia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lymphedema-posterior choanal atresia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Microcephaly with mental retardation and digital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly with mental retardation and digital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, short stature, and impaired glucose metabolism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, short stature, and impaired glucose metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, normal intelligence and immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, normal intelligence and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, postnatal progressive, with seizures and brain atrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, postnatal progressive, with seizures and brain atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation from the curated CTD Gene-Disease Associations dataset. |
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY from the curated CTD Gene-Disease Associations dataset. |
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY from the curated CTD Gene-Disease Associations dataset. |
Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism from the curated CTD Gene-Disease Associations dataset. |
Microcephaly with Mental Retardation and Digital Anomalies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly with Mental Retardation and Digital Anomalies from the curated CTD Gene-Disease Associations dataset. |
microcephaly, postnatal progressive, with seizures and brain atrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, postnatal progressive, with seizures and brain atrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly, seizures, and developmental delay Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, seizures, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly, short stature, and impaired glucose metabolism Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, short stature, and impaired glucose metabolism phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated OMIM Gene-Disease Associations dataset. |
short stature with microcephaly and distinctive facies Gene SetFrom OMIM Gene-Disease Associations genes associated with the short stature with microcephaly and distinctive facies phenotype from the curated OMIM Gene-Disease Associations dataset. |
Jejunal Atresia With Microcephaly And Ocular Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Jejunal Atresia With Microcephaly And Ocular Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cardiac Malformation, Cleft Lip-Palate, Microcephaly And Digital Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cardiac Malformation, Cleft Lip-Palate, Microcephaly And Digital Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
microcephaly, seizures, and developmental delay Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease microcephaly, seizures, and developmental delay from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spastic tetraplegia, thin corpus callosum, and progressive microcephaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
microcephaly, short stature, and limb abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease microcephaly, short stature, and limb abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
microcephaly, seizures, and developmental delay Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease microcephaly, seizures, and developmental delay in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
microcephaly, growth deficiency, seizures, and brain malformations Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease microcephaly, growth deficiency, seizures, and brain malformations in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Leukodystrophy and acquired microcephaly Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Leukodystrophy and acquired microcephaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature and microcephaly Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature and microcephaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Microcephaly-capillary malformation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly-capillary malformation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
microcephaly-capillary malformation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly-capillary malformation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
Microcephaly-Digital Anomalies Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Microcephaly-Digital Anomalies Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
microcephaly-micromelia syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease microcephaly-micromelia syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mandibulofacial dysostosis-microcephaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mandibulofacial dysostosis-microcephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Porencephaly-microcephaly-bilateral congenital cataract syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Porencephaly-microcephaly-bilateral congenital cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Microcephaly-capillary malformation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Microcephaly-capillary malformation syndrome 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. |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Microcephaly-micromelia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Microcephaly-micromelia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Microcephaly-thin corpus callosum-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Microcephaly-thin corpus callosum-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lymphedema, primary, with myelodysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lymphedema, primary, with myelodysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary lymphedema type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary lymphedema type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lymphedema, hereditary, ic Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lymphedema, hereditary, ic phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lymphedema, hereditary, id Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lymphedema, hereditary, id phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
LYMPHEDEMA, HEREDITARY, IC Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease LYMPHEDEMA, HEREDITARY, IC from the curated CTD Gene-Disease Associations dataset. |
Lymphedema, Hereditary, II Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lymphedema, Hereditary, II from the curated CTD Gene-Disease Associations dataset. |
Lymphedema, Hereditary, IB Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lymphedema, Hereditary, IB from the curated CTD Gene-Disease Associations dataset. |
Lymphedema Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lymphedema from the curated CTD Gene-Disease Associations dataset. |
lymphedema Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease lymphedema from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
hereditary lymphedema Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease hereditary lymphedema from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
hereditary lymphedema Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease hereditary lymphedema in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
lymphedema Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease lymphedema in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
lymphedema Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lymphedema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lymphangiectasis; lymphedema Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lymphangiectasis; lymphedema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lymphedema Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term lymphedema in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
lymphedema Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease lymphedema in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
lymphedema Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the lymphedema phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
predominantly lower limb lymphedema Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the predominantly lower limb lymphedema phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
predominantly lower limb lymphedema Gene SetFrom HPO Gene-Disease Associations genes associated with the predominantly lower limb lymphedema phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
lymphedema Gene SetFrom HPO Gene-Disease Associations genes associated with the lymphedema phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Lymphedema Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Lymphedema phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
lymphedema Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the lymphedema phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
lymphedema, hereditary, ia Gene SetFrom OMIM Gene-Disease Associations genes associated with the lymphedema, hereditary, ia phenotype from the curated OMIM Gene-Disease Associations dataset. |
lymphedema, hereditary, ib Gene SetFrom OMIM Gene-Disease Associations genes associated with the lymphedema, hereditary, ib phenotype from the curated OMIM Gene-Disease Associations dataset. |
lymphedema, hereditary, ic Gene SetFrom OMIM Gene-Disease Associations genes associated with the lymphedema, hereditary, ic phenotype from the curated OMIM Gene-Disease Associations dataset. |
lymphedema, hereditary, id Gene SetFrom OMIM Gene-Disease Associations genes associated with the lymphedema, hereditary, id phenotype from the curated OMIM Gene-Disease Associations dataset. |
Lymphedema Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lymphedema in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chronic Acquired Lymphedema Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Acquired Lymphedema in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lymphedema Praecox Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lymphedema Praecox in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Postsurgical Lymphedema Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Postsurgical Lymphedema in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lymphedema Of Lower Extremity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lymphedema Of Lower Extremity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hereditary Lymphedema Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hereditary Lymphedema in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Breast Cancer Lymphedema Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Breast Cancer Lymphedema in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Predominantly Lower Limb Lymphedema Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Predominantly Lower Limb Lymphedema in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
lymphedema Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the lymphedema phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Lymphedema Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Lymphedema from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Hereditary lymphedema I Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Hereditary lymphedema I from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Hereditary lymphedema Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Hereditary lymphedema from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Lymphedema Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Lymphedema in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary lymphedema I Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary lymphedema I in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary lymphedema Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary lymphedema in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary lymphedema II Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary lymphedema II in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary lymphedema IA Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary lymphedema IA in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary lymphedema IC Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary lymphedema IC in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary lymphedema Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary lymphedema phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lymphedema Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lymphedema phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds Gene Setproteins participating in the Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways dataset. |
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary autosomal recessive microcephaly 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primary autosomal recessive microcephaly 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Primary autosomal recessive microcephaly 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primary autosomal recessive microcephaly 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Primary autosomal recessive microcephaly 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primary autosomal recessive microcephaly 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Primary autosomal recessive microcephaly 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primary autosomal recessive microcephaly 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Primary autosomal recessive microcephaly 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primary autosomal recessive microcephaly 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly 12, primary, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly 12, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Primary autosomal recessive microcephaly 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primary autosomal recessive microcephaly 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Primary autosomal recessive microcephaly 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primary autosomal recessive microcephaly 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly 10, primary, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly 10, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amish lethal microcephaly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amish lethal microcephaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly 11, primary, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly 11, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly 9, primary, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly 9, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly 13, primary, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly 13, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amish lethal microcephaly Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Amish lethal microcephaly from the curated CTD Gene-Disease Associations dataset. |
Microcephaly, Primary Autosomal Recessive, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 5 from the curated CTD Gene-Disease Associations dataset. |
Microcephaly, Primary Autosomal Recessive, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 4 from the curated CTD Gene-Disease Associations dataset. |
Microcephaly, Primary Autosomal Recessive, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 6 from the curated CTD Gene-Disease Associations dataset. |
Microcephaly, Primary Autosomal Recessive, 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 7 from the curated CTD Gene-Disease Associations dataset. |
Microcephaly, Primary Autosomal Recessive, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 3 from the curated CTD Gene-Disease Associations dataset. |
Microcephaly, Primary Autosomal Recessive, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 1 from the curated CTD Gene-Disease Associations dataset. |
Microcephaly Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly from the curated CTD Gene-Disease Associations dataset. |
microcephaly Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease microcephaly from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
microcephaly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease microcephaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
autosomal dominant microcephaly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease autosomal dominant microcephaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
microcephaly Gene SetFrom GAD Gene-Disease Associations genes associated with the disease microcephaly in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
micrencephaly ; microcephaly Gene SetFrom GAD Gene-Disease Associations genes associated with the disease micrencephaly ; microcephaly in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental retardation; microcephaly Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental retardation; microcephaly in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
microcephaly Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term microcephaly in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
congenital microcephaly Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital microcephaly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive microcephaly Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive microcephaly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
postnatal microcephaly Gene SetFrom HPO Gene-Disease Associations genes associated with the postnatal microcephaly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
microcephaly Gene SetFrom HPO Gene-Disease Associations genes associated with the microcephaly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Microcephaly Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Microcephaly phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Abnormal spindle-like microcephaly-associated protein Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Abnormal spindle-like microcephaly-associated protein protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
microcephaly Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the microcephaly phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
microcephaly, amish type Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, amish type phenotype from the curated OMIM Gene-Disease Associations dataset. |
?microcephaly 11, primary, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?microcephaly 11, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly 2, primary, autosomal recessive, with or without cortical malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly 2, primary, autosomal recessive, with or without cortical malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly 5, primary, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly 5, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly 9, primary, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly 9, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly 6, primary, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly 6, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly 1, primary, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly 1, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
?microcephaly 8, primary, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?microcephaly 8, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly 3, primary, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly 3, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
periventricular heterotopia with microcephaly Gene SetFrom OMIM Gene-Disease Associations genes associated with the periventricular heterotopia with microcephaly phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly 4, primary, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly 4, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
lissencephaly 4 (with microcephaly) Gene SetFrom OMIM Gene-Disease Associations genes associated with the lissencephaly 4 (with microcephaly) phenotype from the curated OMIM Gene-Disease Associations dataset. |
?microcephaly 12, primary, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?microcephaly 12, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly 7, primary, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly 7, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
?microcephaly 13, primary, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?microcephaly 13, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
?microcephaly 10, primary, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?microcephaly 10, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
Microcephaly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Microcephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Microcephaly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Microcephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Primary Microcephaly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Primary Microcephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Recessive Primary Microcephaly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Primary Microcephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Congenital Microcephaly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Congenital Microcephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Secondary Microcephaly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Secondary Microcephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fetal Microcephaly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fetal Microcephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Microcephaly Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Microcephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Microcephaly Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Microcephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Postnatal Microcephaly Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Postnatal Microcephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Mild Microcephaly Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mild Microcephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
microcephaly Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the microcephaly phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
microcephaly Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the microcephaly phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
Microcephaly Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Microcephaly from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Primary microcephaly Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Primary microcephaly from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Primary autosomal recessive microcephaly Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Primary autosomal recessive microcephaly from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Microcephaly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Microcephaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary autosomal recessive microcephaly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary autosomal recessive microcephaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary microcephaly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary microcephaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary autosomal recessive microcephaly 17 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary autosomal recessive microcephaly 17 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary autosomal recessive microcephaly 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary autosomal recessive microcephaly 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary autosomal recessive microcephaly 2 with or without cortical malformations Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary autosomal recessive microcephaly 2 with or without cortical malformations in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary autosomal recessive microcephaly 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary autosomal recessive microcephaly 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary autosomal recessive microcephaly 19 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary autosomal recessive microcephaly 19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary autosomal recessive microcephaly 10 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary autosomal recessive microcephaly 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary autosomal recessive microcephaly 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary autosomal recessive microcephaly 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant microcephaly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant microcephaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary autosomal recessive microcephaly 13 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary autosomal recessive microcephaly 13 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary autosomal recessive microcephaly 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary autosomal recessive microcephaly 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary autosomal recessive microcephaly 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary autosomal recessive microcephaly 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary autosomal recessive microcephaly 12 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary autosomal recessive microcephaly 12 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary autosomal recessive microcephaly 15 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary autosomal recessive microcephaly 15 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary autosomal dominant microcephaly 18 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary autosomal dominant microcephaly 18 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary autosomal recessive microcephaly 11 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary autosomal recessive microcephaly 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary autosomal recessive microcephaly 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary autosomal recessive microcephaly 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary autosomal recessive microcephaly 14 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary autosomal recessive microcephaly 14 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary autosomal recessive microcephaly 16 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary autosomal recessive microcephaly 16 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Microcephaly Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Microcephaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive primary microcephaly Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive primary microcephaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Primary microcephaly Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Primary microcephaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Amish lethal microcephaly Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Amish lethal microcephaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive microcephaly Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive microcephaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Borderline microcephaly Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Borderline microcephaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Noonan syndrome and Noonan-related syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Noonan syndrome and Noonan-related syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lynch syndrome:Lynch syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression Gene SetFrom Biocarta Pathways proteins participating in the basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression pathway from the Biocarta Pathways dataset. |
BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coloboma, uveal, with cleft lip and palate and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coloboma, uveal, with cleft lip and palate and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diabetes mellitus AND insipidus with optic atrophy AND deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diabetes mellitus AND insipidus with optic atrophy AND deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH from the curated CTD Gene-Disease Associations dataset. |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation from the curated CTD Gene-Disease Associations dataset. |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux from the curated CTD Gene-Disease Associations dataset. |
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations from the curated CTD Gene-Disease Associations dataset. |
postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anxiety and hostility and depression Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anxiety and hostility and depression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
frontotemporal dementia and pick-like 3r and 4r tauopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease frontotemporal dementia and pick-like 3r and 4r tauopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
squamous cell carcinomas of the head and neck (scchn) and breast cancer Gene SetFrom GAD Gene-Disease Associations genes associated with the disease squamous cell carcinomas of the head and neck (scchn) and breast cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
vitamins and metabolites in pregnant women and neonates Gene SetFrom GAD Gene-Disease Associations genes associated with the disease vitamins and metabolites in pregnant women and neonates in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
racemase and epimerase activity, acting on amino acids and derivatives Gene SetFrom GO Molecular Function Annotations 2015 genes performing the racemase and epimerase activity, acting on amino acids and derivatives molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
racemase and epimerase activity, acting on carbohydrates and derivatives Gene SetFrom GO Molecular Function Annotations 2015 genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation phenotype from the curated OMIM Gene-Disease Associations dataset. |
microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Gene SetFrom OMIM Gene-Disease Associations genes associated with the microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated OMIM Gene-Disease Associations dataset. |
craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies phenotype from the curated OMIM Gene-Disease Associations dataset. |
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Setproteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways dataset. |
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Setproteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways dataset. |
PI and PC transport between ER and Golgi membranes Gene Setproteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways dataset. |
Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Setproteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways dataset. |
FGFR1c and Klotho ligand binding and activation Gene Setproteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways dataset. |
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Setproteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways dataset. |
Synthesis and processing of ENV and VPU Gene Setproteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways dataset. |
Synthesis and interconversion of nucleotide di- and triphosphates Gene Setproteins participating in the Synthesis and interconversion of nucleotide di- and triphosphates pathway from the Reactome Pathways dataset. |
SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset. |
SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset. |
SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset. |
High-Grade B-Cell Lymphoma, With Myc And Bcl2 And/Or Bcl6 Rearrangements Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease High-Grade B-Cell Lymphoma, With Myc And Bcl2 And/Or Bcl6 Rearrangements in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
racemase and epimerase activity, acting on carbohydrates and derivatives Gene SetFrom GO Molecular Function Annotations 2023 genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
SRF and miRs in smooth muscle differentiation and proliferation Gene SetFrom WikiPathways Pathways 2024 proteins participating in the SRF and miRs in smooth muscle differentiation and proliferation pathway from the WikiPathways Pathways 2024 dataset. |
SREBF and miR33 in cholesterol and lipid homeostasis Gene SetFrom WikiPathways Pathways 2024 proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis pathway from the WikiPathways Pathways 2024 dataset. |
RIOK1 and RIOK2 in EGFR and PI3K mediated tumorigenesis Gene SetFrom WikiPathways Pathways 2024 proteins participating in the RIOK1 and RIOK2 in EGFR and PI3K mediated tumorigenesis pathway from the WikiPathways Pathways 2024 dataset. |
ApoE and miR 146 in inflammation and atherosclerosis Gene SetFrom WikiPathways Pathways 2024 proteins participating in the ApoE and miR 146 in inflammation and atherosclerosis pathway from the WikiPathways Pathways 2024 dataset. |
Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine pathway from the WikiPathways Pathways 2024 dataset. |
Somatroph axis GH and its relationship to dietary restriction and aging Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Somatroph axis GH and its relationship to dietary restriction and aging pathway from the WikiPathways Pathways 2024 dataset. |
Mechanoregulation and pathology of YAP TAZ via Hippo and non Hippo mechanisms Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Mechanoregulation and pathology of YAP TAZ via Hippo and non Hippo mechanisms pathway from the WikiPathways Pathways 2024 dataset. |
GLP 1 from intestine and pancreas and role in glucose homeostasis Gene SetFrom WikiPathways Pathways 2024 proteins participating in the GLP 1 from intestine and pancreas and role in glucose homeostasis pathway from the WikiPathways Pathways 2024 dataset. |
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Setproteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways 2024 dataset. |
Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR) Gene Setproteins participating in the Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR) pathway from the Reactome Pathways 2024 dataset. |
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Setproteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways 2024 dataset. |
FGFR1c and Klotho ligand binding and activation Gene Setproteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways 2024 dataset. |
MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Gene Setproteins participating in the MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis pathway from the Reactome Pathways 2024 dataset. |
Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Setproteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways 2024 dataset. |
PI and PC transport between ER and Golgi membranes Gene Setproteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways 2024 dataset. |
PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 Gene Setproteins participating in the PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 pathway from the Reactome Pathways 2024 dataset. |
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Gene Setproteins participating in the Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks pathway from the Reactome Pathways 2024 dataset. |
Synthesis and processing of ENV and VPU Gene Setproteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways 2024 dataset. |
Transcriptional and post-translational regulation of MITF-M expression and activity Gene Setproteins participating in the Transcriptional and post-translational regulation of MITF-M expression and activity pathway from the Reactome Pathways 2024 dataset. |
Transport of bile salts and organic acids, metal ions and amine compounds Gene Setproteins participating in the Transport of bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways 2024 dataset. |
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Setproteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways 2024 dataset. |
racemase and epimerase activity, acting on carbohydrates and derivatives Gene SetFrom GO Molecular Function Annotations 2025 genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Vertebral anomalies and variable endocrine and T-cell dysfunction Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Vertebral anomalies and variable endocrine and T-cell dysfunction in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Vertebral anomalies and variable endocrine and T-cell dysfunction Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Vertebral anomalies and variable endocrine and T-cell dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Regulation of gene expression and signal transduction in immune and stress responses Gene SetFrom CM4AI U2OS Cell Map Protein Localization Assemblies proteins comprising Regulation of gene expression and signal transduction in immune and stress responses assembly using integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset. |
Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
visceral fat deposits and the metabolic syndrome Gene SetFrom Biocarta Pathways proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset. |
Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Foveal hypoplasia and presenile cataract syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Foveal hypoplasia and presenile cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniofacial anomalies and anterior segment dysgenesis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rigidity and multifocal seizure syndrome, lethal neonatal Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alopecia, neurologic defects, and endocrinopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Knuckle pads, deafness AND leukonychia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Knuckle pads, deafness AND leukonychia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jervell and Lange-Nielsen syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jervell and Lange-Nielsen syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jervell and Lange-Nielsen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jervell and Lange-Nielsen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutis Gyrata syndrome of Beare and Stevenson Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutis Gyrata syndrome of Beare and Stevenson phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alacrima, achalasia, and mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alacrima, achalasia, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutaneous telangiectasia and cancer syndrome, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutaneous telangiectasia and cancer syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pineal hyperplasia AND diabetes mellitus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pineal hyperplasia AND diabetes mellitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Camptodactyly, tall stature, and hearing loss syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Camptodactyly, tall stature, and hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, iris coloboma, and comedogenic acne syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome from the curated CTD Gene-Disease Associations dataset. |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease from the curated CTD Gene-Disease Associations dataset. |
Keratitis, Ichthyosis, and Deafness (KID) Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Keratitis, Ichthyosis, and Deafness (KID) Syndrome from the curated CTD Gene-Disease Associations dataset. |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 from the curated CTD Gene-Disease Associations dataset. |
Cutis Gyrata Syndrome of Beare And Stevenson Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cutis Gyrata Syndrome of Beare And Stevenson from the curated CTD Gene-Disease Associations dataset. |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 from the curated CTD Gene-Disease Associations dataset. |
Hereditary Breast and Ovarian Cancer Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Breast and Ovarian Cancer Syndrome from the curated CTD Gene-Disease Associations dataset. |
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS from the curated CTD Gene-Disease Associations dataset. |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 from the curated CTD Gene-Disease Associations dataset. |
Sarcoma family syndrome of Li and Fraumeni Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sarcoma family syndrome of Li and Fraumeni from the curated CTD Gene-Disease Associations dataset. |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome from the curated CTD Gene-Disease Associations dataset. |
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis from the curated CTD Gene-Disease Associations dataset. |
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 from the curated CTD Gene-Disease Associations dataset. |
Jervell And Lange-Nielsen Syndrome 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Jervell And Lange-Nielsen Syndrome 2 from the curated CTD Gene-Disease Associations dataset. |
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alopecia, Neurologic Defects, and Endocrinopathy Syndrome from the curated CTD Gene-Disease Associations dataset. |
Renal cysts and diabetes syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Renal cysts and diabetes syndrome from the curated CTD Gene-Disease Associations dataset. |
blepharophimosis, ptosis, and epicanthus inversus syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease blepharophimosis, ptosis, and epicanthus inversus syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
tooth and nail syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease tooth and nail syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
blepharophimosis, ptosis, and epicanthus inversus syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease blepharophimosis, ptosis, and epicanthus inversus syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
hyper-ige syndrome and severe eczema. atopy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyper-ige syndrome and severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
psoriasis, psoriatic arthritis, and sapho syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease psoriasis, psoriatic arthritis, and sapho syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
jervell and lange-nielsen syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease jervell and lange-nielsen syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyper-igm syndrome can form oligomers and trigger cd40-mediated signals Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyper-igm syndrome can form oligomers and trigger cd40-mediated signals in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
leigh syndrome and cytochrome c oxidase deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease leigh syndrome and cytochrome c oxidase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
complete androgen insensitivity syndrome and sertoli cell adenoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease complete androgen insensitivity syndrome and sertoli cell adenoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
metabolic syndrome and electrocardiographic coronary artery disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease metabolic syndrome and electrocardiographic coronary artery disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
critical illness; respiratory distress syndrome, adult; wounds and injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease critical illness; respiratory distress syndrome, adult; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
systemic inflammatory response syndrome; wounds and injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease systemic inflammatory response syndrome; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
elevated liver enzymes and metabolic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease elevated liver enzymes and metabolic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
tic; combined vocal and multiple motor; tourette syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease tic; combined vocal and multiple motor; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
li-fraumeni and related syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease li-fraumeni and related syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
jervell and lange-nielsen syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the jervell and lange-nielsen syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
melanoma and neural system tumor syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the melanoma and neural system tumor syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
craniofacial anomalies and anterior segment dysgenesis syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
renal cysts and diabetes syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the renal cysts and diabetes syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
alacrima, achalasia, and mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the alacrima, achalasia, and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
rigidity and multifocal seizure syndrome, lethal neonatal Gene SetFrom OMIM Gene-Disease Associations genes associated with the rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated OMIM Gene-Disease Associations dataset. |
myelodysplasia and leukemia syndrome with monosomy 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myelodysplasia and leukemia syndrome with monosomy 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
aicardi-goutieres syndrome 1, dominant and recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the aicardi-goutieres syndrome 1, dominant and recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
?cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
antley-bixler syndrome with genital anomalies and disordered steroidogenesis Gene SetFrom OMIM Gene-Disease Associations genes associated with the antley-bixler syndrome with genital anomalies and disordered steroidogenesis phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
?retinal dystrophy, juvenile cataracts, and short stature syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
retinol dystrophy, iris coloboma, and comedogenic acne syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the retinol dystrophy, iris coloboma, and comedogenic acne syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Gene SetFrom OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss phenotype from the curated OMIM Gene-Disease Associations dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
jervell and lange-nielsen syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the jervell and lange-nielsen syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene SetFrom OMIM Gene-Disease Associations genes associated with the myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated OMIM Gene-Disease Associations dataset. |
autoinflammation, antibody deficiency, and immune dysregulation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the autoinflammation, antibody deficiency, and immune dysregulation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
alopecia, neurologic defects, and endocrinopathy syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
cutaneous telangiectasia and cancer syndrome, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the cutaneous telangiectasia and cancer syndrome, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial recessive ataxia syndrome (includes sando and scae) Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial recessive ataxia syndrome (includes sando and scae) phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
autoinflammation, lipodystrophy, and dermatosis syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the autoinflammation, lipodystrophy, and dermatosis syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
?partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
Tibial Aplasia And Ectrodactyly Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Tibial Aplasia And Ectrodactyly Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hereditary Breast And Ovarian Cancer Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hereditary Breast And Ovarian Cancer Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome 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. |
Chronic Infantile Neurological, Cutaneous, And Articular Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Infantile Neurological, Cutaneous, And Articular Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polio And Post-Polio Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polio And Post-Polio Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cutaneous Telangiectasia And Cancer Syndrome, Familial Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cutaneous Telangiectasia And Cancer Syndrome, Familial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Partial Lipodystrophy, Congenital Cataracts, And Neurodegeneration Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Partial Lipodystrophy, Congenital Cataracts, And Neurodegeneration Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy-Like Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy-Like Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Behavioral Syndrome Associated With Physiological Disturbance And Physical Factors Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Behavioral Syndrome Associated With Physiological Disturbance And Physical Factors in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Therapy-Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Therapy-Related Acute Myeloid Leukemia And Myelodysplastic Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Renal Cysts And Diabetes Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Renal Cysts And Diabetes Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cutis Gyrata Syndrome Of Beare And Stevenson Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cutis Gyrata Syndrome Of Beare And Stevenson in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alacrima, Achalasia, And Mental Retardation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alacrima, Achalasia, And Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nail And Tooth Abnormalities, Marginal Palmoplantar Keratoderma, Oral Hyperpigmentation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nail And Tooth Abnormalities, Marginal Palmoplantar Keratoderma, Oral Hyperpigmentation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Vertebral, Cardiac, Renal, And Limb Defects Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Jervell And Lange-Nielsen Syndrome 2 (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Jervell And Lange-Nielsen Syndrome 2 (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Periodic Fever, Aphthous Stomatitis, Pharyngitis, And Adenopathy Syndrome [Pfapa] Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Periodic Fever, Aphthous Stomatitis, Pharyngitis, And Adenopathy Syndrome [Pfapa] in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Encephalopathy, Lactic Acidosis And Stroke-Like Episodes (Melas Syndrome) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Encephalopathy, Lactic Acidosis And Stroke-Like Episodes (Melas Syndrome) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Andibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Andibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Heart And Brain Malformation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Heart And Brain Malformation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Facial Onset Sensory And Motor Neuronopathy Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Facial Onset Sensory And Motor Neuronopathy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Structural Heart Defects And Renal Anomalies Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Structural Heart Defects And Renal Anomalies Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Coloboma, Cleft Lip-Palate And Mental Retardation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Coloboma, Cleft Lip-Palate And Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
MECP2 and associated Rett syndrome Gene SetFrom WikiPathways Pathways 2024 proteins participating in the MECP2 and associated Rett syndrome pathway from the WikiPathways Pathways 2024 dataset. |
Prader Willi and Angelman syndrome Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Prader Willi and Angelman syndrome pathway from the WikiPathways Pathways 2024 dataset. |
Smith Magenis and Potocki Lupski syndrome copy number variation Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Smith Magenis and Potocki Lupski syndrome copy number variation pathway from the WikiPathways Pathways 2024 dataset. |
Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome Gene Setproteins participating in the Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome pathway from the Reactome Pathways 2024 dataset. |
contractures, pterygia, and spondylocarpotarsal fusion syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease contractures, pterygia, and spondylocarpotarsal fusion syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
blepharophimosis, ptosis, and epicanthus inversus syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease blepharophimosis, ptosis, and epicanthus inversus syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
alopecia, neurologic defects, and endocrinopathy syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease alopecia, neurologic defects, and endocrinopathy syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary arterial and articular multiple calcification syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary arterial and articular multiple calcification syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
hypotonia, ataxia, and delayed development syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease hypotonia, ataxia, and delayed development syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
alacrima, achalasia, and impaired intellectual development syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease alacrima, achalasia, and impaired intellectual development syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Salt and pepper syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Salt and pepper syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Agenesis of corpus callosum, cardiac, ocular, and genital syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cerebellar ataxia, mental retardation and dysequlibrium syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cerebellar ataxia, mental retardation and dysequlibrium syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
blepharophimosis, ptosis, and epicanthus inversus syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease blepharophimosis, ptosis, and epicanthus inversus syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
syndactyly-telecanthus-anogenital and renal malformations syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease syndactyly-telecanthus-anogenital and renal malformations syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
contractures, pterygia, and spondylocarpotarsal fusion syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease contractures, pterygia, and spondylocarpotarsal fusion syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Melanoma and neural system tumor syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Melanoma and neural system tumor syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Tooth and nail syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Tooth and nail syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypertension and brachydactyly syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypertension and brachydactyly syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Joubert syndrome and related disorders Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Joubert syndrome and related disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Jervell and Lange-Nielsen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Jervell and Lange-Nielsen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Fetal akinesia-cerebral and retinal hemorrhage syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Fetal akinesia-cerebral and retinal hemorrhage syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Syndactyly-telecanthus-anogenital and renal malformations syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndactyly-telecanthus-anogenital and renal malformations syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Melanoma and neural system tumor syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Melanoma and neural system tumor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
CDH1-related diffuse gastric and lobular breast cancer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the CDH1-related diffuse gastric and lobular breast cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Renal cysts and diabetes syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Renal cysts and diabetes syndrome 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. |
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary thrombocytopenia and hematologic cancer predisposition syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined osteogenesis imperfecta and Ehlers-Danlos syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary arterial and articular multiple calcification syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary arterial and articular multiple calcification syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progeroid and marfanoid aspect-lipodystrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progeroid and marfanoid aspect-lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability and myopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability and myopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Gastrointestinal defects and immunodeficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Gastrointestinal defects and immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Gastrointestinal defect and immunodeficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Gastrointestinal defect and immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Monosomy 7 myelodysplasia and leukemia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Monosomy 7 myelodysplasia and leukemia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Diffuse gastric and lobular breast cancer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Diffuse gastric and lobular breast cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
POLE-related polyposis and colorectal cancer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the POLE-related polyposis and colorectal cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature-pituitary and cerebellar defects-small sella turcica syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature-pituitary and cerebellar defects-small sella turcica syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Keratitis ichthyosis and deafness syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Keratitis ichthyosis and deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital heart defects and skeletal malformations syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital heart defects and skeletal malformations syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Structural heart defects and renal anomalies syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Structural heart defects and renal anomalies syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Childhood-onset motor and cognitive regression syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Childhood-onset motor and cognitive regression syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pulmonary fibrosis and/or bone marrow failure syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pulmonary fibrosis and/or bone marrow failure syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Focal segmental glomerulosclerosis and neurodevelopmental syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Focal segmental glomerulosclerosis and neurodevelopmental syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Heart and brain malformation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Heart and brain malformation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Craniofacial anomalies and anterior segment dysgenesis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Genitourinary and/or brain malformation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Genitourinary and/or brain malformation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital anomalies of kidney and urinary tract syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital anomalies of kidney and urinary tract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Triokinase and FMN cyclase deficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Triokinase and FMN cyclase deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Polycystic ovary syndrome (adjusted for age and BMI) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Polycystic ovary syndrome (adjusted for age and BMI) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Lynch syndrome:Turcot syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marfan's syndrome:Marfan's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marfan's syndrome:Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
IFAP syndrome with or without BRESHECK syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the IFAP syndrome with or without BRESHECK syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome I:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome I:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Miller-McKusick-Malvaux-Syndrome (3M Syndrome) from the curated CTD Gene-Disease Associations dataset. |
Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 from the curated CTD Gene-Disease Associations dataset. |
menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations 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. |
hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cornelia de lange syndrome; de lange syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cornelia de lange syndrome; de lange syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatigue syndrome, chronic; fatigue syndrome; postviral Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene SetFrom GAD Gene-Disease Associations genes associated with the disease resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
restless legs syndrome; tourette syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
behcet syndrome; uveomeningoencephalitic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease behcet syndrome; uveomeningoencephalitic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
melas syndrome; merrf syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease melas syndrome; merrf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infertility; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infertility; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
angelman syndrome; rett syndrome; seizures Gene SetFrom GAD Gene-Disease Associations genes associated with the disease angelman syndrome; rett syndrome; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
digeorge syndrome; memory disorders; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; memory disorders; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
metabolic syndrome ; metabolic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease metabolic syndrome ; metabolic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
digeorge syndrome; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome 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. |
acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
down syndrome; ehlers-danlos syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease down syndrome; ehlers-danlos syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis; felty's syndrome; large granular lymphocyte syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis; felty's syndrome; large granular lymphocyte syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; metabolic syndrome x; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart-hand syndrome, holt-oram syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart-hand syndrome, holt-oram syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
digeorge syndrome/velocardiofacial syndrome complex-2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the digeorge syndrome/velocardiofacial syndrome complex-2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ifap syndrome with or without bresheck syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the ifap syndrome with or without bresheck syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Crouzon syndrome-acanthosis nigricans syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Crouzon syndrome-acanthosis nigricans syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Crouzon syndrome-acanthosis nigricans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked cerebral-cerebellar-coloboma syndrome syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked cerebral-cerebellar-coloboma syndrome syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Basic cell groups and regions Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Basic cell groups and regions relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
head and face region of M1 Gene SetFrom Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles genes with high or low expression in head and face region of M1 relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. |
telomeres telomerase cellular aging and immortality Gene SetFrom Biocarta Pathways proteins participating in the telomeres telomerase cellular aging and immortality pathway from the Biocarta Pathways dataset. |
mcalpain and friends in cell motility Gene SetFrom Biocarta Pathways proteins participating in the mcalpain and friends in cell motility pathway from the Biocarta Pathways dataset. |
role of ppar-gamma coactivators in obesity and thermogenesis Gene SetFrom Biocarta Pathways proteins participating in the role of ppar-gamma coactivators in obesity and thermogenesis pathway from the Biocarta Pathways dataset. |
il12 and stat4 dependent signaling pathway in th1 development Gene SetFrom Biocarta Pathways proteins participating in the il12 and stat4 dependent signaling pathway in th1 development pathway from the Biocarta Pathways dataset. |
hypoxia and p53 in the cardiovascular system Gene SetFrom Biocarta Pathways proteins participating in the hypoxia and p53 in the cardiovascular system pathway from the Biocarta Pathways dataset. |
lissencephaly gene (lis1) in neuronal migration and development Gene SetFrom Biocarta Pathways proteins participating in the lissencephaly gene (lis1) in neuronal migration and development pathway from the Biocarta Pathways dataset. |
role of erbb2 in signal transduction and oncology Gene SetFrom Biocarta Pathways proteins participating in the role of erbb2 in signal transduction and oncology pathway from the Biocarta Pathways dataset. |
corticosteroids and cardioprotection Gene SetFrom Biocarta Pathways proteins participating in the corticosteroids and cardioprotection pathway from the Biocarta Pathways dataset. |
cyclins and cell cycle regulation Gene SetFrom Biocarta Pathways proteins participating in the cyclins and cell cycle regulation pathway from the Biocarta Pathways dataset. |
mechanism of acetaminophen activity and toxicity Gene SetFrom Biocarta Pathways proteins participating in the mechanism of acetaminophen activity and toxicity pathway from the Biocarta Pathways dataset. |
nfat and hypertrophy of the heart Gene SetFrom Biocarta Pathways proteins participating in the nfat and hypertrophy of the heart pathway from the Biocarta Pathways dataset. |
acetylation and deacetylation of rela in nucleus Gene SetFrom Biocarta Pathways proteins participating in the acetylation and deacetylation of rela in nucleus pathway from the Biocarta Pathways dataset. |
thrombin signaling and protease-activated receptors Gene SetFrom Biocarta Pathways proteins participating in the thrombin signaling and protease-activated receptors pathway from the Biocarta Pathways dataset. |
antigen processing and presentation Gene SetFrom Biocarta Pathways proteins participating in the antigen processing and presentation pathway from the Biocarta Pathways dataset. |
stathmin and breast cancer resistance to antimicrotubule agents Gene SetFrom Biocarta Pathways proteins participating in the stathmin and breast cancer resistance to antimicrotubule agents pathway from the Biocarta Pathways dataset. |
role of ß-arrestins in the activation and targeting of map kinases Gene SetFrom Biocarta Pathways proteins participating in the role of ß-arrestins in the activation and targeting of map kinases pathway from the Biocarta Pathways dataset. |
cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway Gene SetFrom Biocarta Pathways proteins participating in the cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway pathway from the Biocarta Pathways dataset. |
role of pi3k subunit p85 in regulation of actin organization and cell migration Gene SetFrom Biocarta Pathways proteins participating in the role of pi3k subunit p85 in regulation of actin organization and cell migration pathway from the Biocarta Pathways dataset. |
btg family proteins and cell cycle regulation Gene SetFrom Biocarta Pathways proteins participating in the btg family proteins and cell cycle regulation pathway from the Biocarta Pathways dataset. |
control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) Gene SetFrom Biocarta Pathways proteins participating in the control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) pathway from the Biocarta Pathways dataset. |
endocytotic role of ndk phosphins and dynamin Gene SetFrom Biocarta Pathways proteins participating in the endocytotic role of ndk phosphins and dynamin pathway from the Biocarta Pathways dataset. |
regulation of eif-4e and p70s6 kinase Gene SetFrom Biocarta Pathways proteins participating in the regulation of eif-4e and p70s6 kinase pathway from the Biocarta Pathways dataset. |
estrogen responsive protein efp controls cell cycle and breast tumors growth Gene SetFrom Biocarta Pathways proteins participating in the estrogen responsive protein efp controls cell cycle and breast tumors growth pathway from the Biocarta Pathways dataset. |
vegf hypoxia and angiogenesis Gene SetFrom Biocarta Pathways proteins participating in the vegf hypoxia and angiogenesis pathway from the Biocarta Pathways dataset. |
yaci and bcma stimulation of b cell immune responses Gene SetFrom Biocarta Pathways proteins participating in the yaci and bcma stimulation of b cell immune responses pathway from the Biocarta Pathways dataset. |
lck and fyn tyrosine kinases in initiation of tcr activation Gene SetFrom Biocarta Pathways proteins participating in the lck and fyn tyrosine kinases in initiation of tcr activation pathway from the Biocarta Pathways dataset. |
hiv-1 nef: negative effector of fas and tnf Gene SetFrom Biocarta Pathways proteins participating in the hiv-1 nef: negative effector of fas and tnf pathway from the Biocarta Pathways dataset. |
nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells Gene SetFrom Biocarta Pathways proteins participating in the nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells pathway from the Biocarta Pathways dataset. |
ucalpain and friends in cell spread Gene SetFrom Biocarta Pathways proteins participating in the ucalpain and friends in cell spread pathway from the Biocarta Pathways dataset. |
ionomycin and phorbal ester signaling pathway Gene SetFrom Biocarta Pathways proteins participating in the ionomycin and phorbal ester signaling pathway pathway from the Biocarta Pathways dataset. |
carm1 and regulation of the estrogen receptor Gene SetFrom Biocarta Pathways proteins participating in the carm1 and regulation of the estrogen receptor pathway from the Biocarta Pathways dataset. |
phosphoinositides and their downstream targets Gene SetFrom Biocarta Pathways proteins participating in the phosphoinositides and their downstream targets pathway from the Biocarta Pathways dataset. |
melanocyte development and pigmentation pathway Gene SetFrom Biocarta Pathways proteins participating in the melanocyte development and pigmentation pathway pathway from the Biocarta Pathways dataset. |
akap95 role in mitosis and chromosome dynamics Gene SetFrom Biocarta Pathways proteins participating in the akap95 role in mitosis and chromosome dynamics pathway from the Biocarta Pathways dataset. |
transcription factor creb and its extracellular signals Gene SetFrom Biocarta Pathways proteins participating in the transcription factor creb and its extracellular signals pathway from the Biocarta Pathways dataset. |
the igf-1 receptor and longevity Gene SetFrom Biocarta Pathways proteins participating in the the igf-1 receptor and longevity pathway from the Biocarta Pathways dataset. |
cdc25 and chk1 regulatory pathway in response to dna damage Gene SetFrom Biocarta Pathways proteins participating in the cdc25 and chk1 regulatory pathway in response to dna damage pathway from the Biocarta Pathways dataset. |
human cytomegalovirus and map kinase pathways Gene SetFrom Biocarta Pathways proteins participating in the human cytomegalovirus and map kinase pathways pathway from the Biocarta Pathways dataset. |
influence of ras and rho proteins on g1 to s transition Gene SetFrom Biocarta Pathways proteins participating in the influence of ras and rho proteins on g1 to s transition pathway from the Biocarta Pathways dataset. |
proteolysis and signaling pathway of notch Gene SetFrom Biocarta Pathways proteins participating in the proteolysis and signaling pathway of notch pathway from the Biocarta Pathways dataset. |
apoptotic dna-fragmentation and tissue homeostasis Gene SetFrom Biocarta Pathways proteins participating in the apoptotic dna-fragmentation and tissue homeostasis pathway from the Biocarta Pathways dataset. |
ion channels and their functional role in vascular endothelium Gene SetFrom Biocarta Pathways proteins participating in the ion channels and their functional role in vascular endothelium pathway from the Biocarta Pathways dataset. |
alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease Gene SetFrom Biocarta Pathways proteins participating in the alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease pathway from the Biocarta Pathways dataset. |
fosb gene expression and drug abuse Gene SetFrom Biocarta Pathways proteins participating in the fosb gene expression and drug abuse pathway from the Biocarta Pathways dataset. |
links between pyk2 and map kinases Gene SetFrom Biocarta Pathways proteins participating in the links between pyk2 and map kinases pathway from the Biocarta Pathways dataset. |
opposing roles of aif in apoptosis and cell survival Gene SetFrom Biocarta Pathways proteins participating in the opposing roles of aif in apoptosis and cell survival pathway from the Biocarta Pathways dataset. |
degradation of the rar and rxr by the proteasome Gene SetFrom Biocarta Pathways proteins participating in the degradation of the rar and rxr by the proteasome pathway from the Biocarta Pathways dataset. |
cadmium induces dna synthesis and proliferation in macrophages Gene SetFrom Biocarta Pathways proteins participating in the cadmium induces dna synthesis and proliferation in macrophages pathway from the Biocarta Pathways dataset. |
erk and pi-3 kinase are necessary for collagen binding in corneal epithelia Gene SetFrom Biocarta Pathways proteins participating in the erk and pi-3 kinase are necessary for collagen binding in corneal epithelia pathway from the Biocarta Pathways dataset. |
role of brca1 brca2 and atr in cancer susceptibility Gene SetFrom Biocarta Pathways proteins participating in the role of brca1 brca2 and atr in cancer susceptibility pathway from the Biocarta Pathways dataset. |
chrebp regulation by carbohydrates and camp Gene SetFrom Biocarta Pathways proteins participating in the chrebp regulation by carbohydrates and camp pathway from the Biocarta Pathways dataset. |
pten dependent cell cycle arrest and apoptosis Gene SetFrom Biocarta Pathways proteins participating in the pten dependent cell cycle arrest and apoptosis pathway from the Biocarta Pathways dataset. |
induction of apoptosis through dr3 and dr4/5 death receptors Gene SetFrom Biocarta Pathways proteins participating in the induction of apoptosis through dr3 and dr4/5 death receptors pathway from the Biocarta Pathways dataset. |
CIITA-18437201-Raji B cells and iDC-human Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the CIITA-18437201-Raji B cells and iDC-human transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
FOXP2-23625967-PFSK-1 AND SK-N-MC-HUMAN Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the FOXP2-23625967-PFSK-1 AND SK-N-MC-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
VDR-23401126-LCL-AND-THP1-HUMAN Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the VDR-23401126-LCL-AND-THP1-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
YY1-23942234-MYOBLASTS AND MYOTUBES-MOUSE Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the YY1-23942234-MYOBLASTS AND MYOTUBES-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
BACH1-22875853-HELA-AND-SCP4-HUMAN Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the BACH1-22875853-HELA-AND-SCP4-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
EZH2-23942234-MYOBLASTS AND MYOTUBES-MOUSE Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the EZH2-23942234-MYOBLASTS AND MYOTUBES-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
Hypothyroidism, central, and testicular enlargement Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypothyroidism, central, and testicular enlargement phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Trifunctional protein deficiency with myopathy and neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arthrogryposis, mental retardation, and seizures Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arthrogryposis, mental retardation, and seizures phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Vater association with macrocephaly and ventriculomegaly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Vater association with macrocephaly and ventriculomegaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal hamartomas nephroblastomatosis and fetal gigantism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal hamartomas nephroblastomatosis and fetal gigantism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, lactic acidosis, and sideroblastic anemia 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microtia, hearing impairment, and cleft palate Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microtia, hearing impairment, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ichthyosis, spastic quadriplegia, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ichthyosis, spastic quadriplegia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypermanganesemia with dystonia, polycythemia and cirrhosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypermanganesemia with dystonia, polycythemia and cirrhosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined cellular and humoral immune defects with granulomas Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined cellular and humoral immune defects with granulomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined d-2- and l-2-hydroxyglutaric aciduria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined d-2- and l-2-hydroxyglutaric aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sinoatrial node dysfunction and deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sinoatrial node dysfunction and deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation with language impairment and autistic features Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation with language impairment and autistic features phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Warts, hypogammaglobulinemia, infections, and myelokathexis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Warts, hypogammaglobulinemia, infections, and myelokathexis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fibular hypoplasia and complex brachydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fibular hypoplasia and complex brachydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, anterior maxillary protrusion, and strabismus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, anterior maxillary protrusion, and strabismus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile convulsions and paroxysmal choreoathetosis, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile convulsions and paroxysmal choreoathetosis, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short stature, optic nerve atrophy, and pelger-huet anomaly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short stature, optic nerve atrophy, and pelger-huet anomaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alzheimer disease, familial, 3, with spastic paraparesis and apraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Insulin-resistant diabetes mellitus AND acanthosis nigricans Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Insulin-resistant diabetes mellitus AND acanthosis nigricans phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness with labyrinthine aplasia microtia and microdontia (LAMM) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness with labyrinthine aplasia microtia and microdontia (LAMM) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple Cutaneous and Mucosal Venous Malformations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple Cutaneous and Mucosal Venous Malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neuropathy hereditary sensory and autonomic type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neuropathy hereditary sensory and autonomic type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peripheral neuropathy, myopathy, hoarseness, and hearing loss Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth retardation, developmental delay, coarse facies, and early death Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth retardation, developmental delay, coarse facies, and early death phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inflammatory skin and bowel disease, neonatal, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inflammatory skin and bowel disease, neonatal, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anemia sideroblastic and spinocerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anemia sideroblastic and spinocerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Facial dysmorphism, immunodeficiency, livedo, and short stature Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Facial dysmorphism, immunodeficiency, livedo, and short stature phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, congenital heart defects, and posterior embryotoxon Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, congenital heart defects, and posterior embryotoxon phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infertility associated with multi-tailed spermatozoa and excessive DNA Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infertility associated with multi-tailed spermatozoa and excessive DNA phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Iris coloboma with ptosis, hypertelorism, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Iris coloboma with ptosis, hypertelorism, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mullerian aplasia and hyperandrogenism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mullerian aplasia and hyperandrogenism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy with early-onset paget disease and frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multicentric osteolysis, nodulosis and arthropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multicentric osteolysis, nodulosis and arthropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stapes ankylosis with broad thumb and toes Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stapes ankylosis with broad thumb and toes phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corneal dystrophy and perceptive deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corneal dystrophy and perceptive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, lactic acidosis, and sideroblastic anemia 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neuropathy, hereditary motor and sensory, Okinawa type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neuropathy, hereditary motor and sensory, Okinawa type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemorrhagic destruction of the brain, subependymal calcification, and cataracts phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macrocephaly, alopecia, cutis laxa, and scoliosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Macrocephaly, alopecia, cutis laxa, and scoliosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypomyelination and Congenital Cataract Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypomyelination and Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hirschsprung disease, cardiac defects, and autonomic dysfunction Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hirschsprung disease, cardiac defects, and autonomic dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cardiomyopathy dilated with woolly hair and keratoderma Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cardiomyopathy dilated with woolly hair and keratoderma phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arthrogryposis, renal dysfunction, and cholestasis 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arthrogryposis, renal dysfunction, and cholestasis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract and cardiomyopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract and cardiomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inflammatory skin and bowel disease, neonatal Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inflammatory skin and bowel disease, neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, microphthalmia and nystagmus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, microphthalmia and nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Foveal hypoplasia and anterior segment dysgenesis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Foveal hypoplasia and anterior segment dysgenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bone fragility with contractures, arterial rupture, and deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bone fragility with contractures, arterial rupture, and deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ulna and fibula absence of with severe limb deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor v and factor viii, combined deficiency of, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor v and factor viii, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary Paragangliomas and Pheochromocytomas Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary Paragangliomas and Pheochromocytomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked rolandic epilepsy with mental retardation and speech dyspraxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked rolandic epilepsy with mental retardation and speech dyspraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Band-like calcification with simplified gyration and polymicrogyria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Band-like calcification with simplified gyration and polymicrogyria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia and hypogonadotropic hypogonadism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia and hypogonadotropic hypogonadism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, X-linked, with variable learning disabilities and behavior disorders Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, X-linked, with variable learning disabilities and behavior disorders phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Optic atrophy and cataract, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Optic atrophy and cataract, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, juvenile, with microcornea and glucosuria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, juvenile, with microcornea and glucosuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, deafness, and narcolepsy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, deafness, and narcolepsy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Juvenile macular degeneration and hypotrichosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Juvenile macular degeneration and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary motor and sensory neuropathy with optic atrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary motor and sensory neuropathy with optic atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary leiomyomatosis and renal cell cancer Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary leiomyomatosis and renal cell cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Monocyte and dendritic cell deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the T-cell immunodeficiency, congenital alopecia and nail dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pancreatic agenesis and congenital heart disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pancreatic agenesis and congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined malonic and methylmalonic aciduria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined malonic and methylmalonic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcornea, myopic chorioretinal atrophy, and telecanthus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcornea, myopic chorioretinal atrophy, and telecanthus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glomerulocystic kidney disease with hyperuricemia and isosthenuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corneal intraepithelial dyskeratosis and ectodermal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corneal intraepithelial dyskeratosis and ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aniridia, cerebellar ataxia, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aniridia, cerebellar ataxia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked hereditary motor and sensory neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked hereditary motor and sensory neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniosynostosis and dental anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniosynostosis and dental anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mycobacterial and viral infections, susceptibility to, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mycobacterial and viral infections, susceptibility to, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Obesity, hyperphagia, and developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Obesity, hyperphagia, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebroretinal microangiopathy with calcifications and cysts Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebroretinal microangiopathy with calcifications and cysts phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Generalized epilepsy and paroxysmal dyskinesia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Generalized epilepsy and paroxysmal dyskinesia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Calcification of joints and arteries Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Calcification of joints and arteries phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypotrichosis and recurrent skin vesicles Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypotrichosis and recurrent skin vesicles phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epidermolysa bullosa simplex and limb girdle muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epidermolysa bullosa simplex and limb girdle muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Psychomotor retardation, epilepsy, and craniofacial dysmorphism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Psychomotor retardation, epilepsy, and craniofacial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epiphyseal dysplasia, multiple, with myopia and conductive deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epiphyseal dysplasia, multiple, with myopia and conductive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Morbid obesity and spermatogenic failure Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Morbid obesity and spermatogenic failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Skeletal defects, genital hypoplasia, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Skeletal defects, genital hypoplasia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Striatal necrosis, bilateral, and progressive polyneuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Striatal necrosis, bilateral, and progressive polyneuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary sensory and autonomic neuropathy type IIA Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary sensory and autonomic neuropathy type IIA phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopia, high, with cataract and vitreoretinal degeneration Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopia, high, with cataract and vitreoretinal degeneration phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined deficiency of factor V and factor VIII, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined deficiency of factor V and factor VIII, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corneal fragility keratoglobus, blue sclerae AND joint hypermobility phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyogenic arthritis, pyoderma gangrenosum and acne Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyogenic arthritis, pyoderma gangrenosum and acne phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth deficiency and mental retardation with facial dysmorphism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth deficiency and mental retardation with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital Cataracts, Facial Dysmorphism, and Neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital Cataracts, Facial Dysmorphism, and Neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, cochlear, with myopia and intellectual impairment Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, cochlear, with myopia and intellectual impairment phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined deficiency of sialidase AND beta galactosidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation with short stature, hypogonadism and abnormal gait Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation with short stature, hypogonadism and abnormal gait phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
calcium- and calmodulin-dependent protein kinase complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the calcium- and calmodulin-dependent protein kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
mrna cleavage and polyadenylation specificity factor complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the mrna cleavage and polyadenylation specificity factor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
mitochondrial sorting and assembly machinery complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the mitochondrial sorting and assembly machinery complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
calcium- and calmodulin-dependent protein kinase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the calcium- and calmodulin-dependent protein kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
cortical layer of collagen and cuticulin-based cuticle extracellular matrix Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the cortical layer of collagen and cuticulin-based cuticle extracellular matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen and cuticulin-based cuticle extracellular matrix Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen and cuticulin-based cuticle extracellular matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
mrna cleavage and polyadenylation specificity factor complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the mrna cleavage and polyadenylation specificity factor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen and cuticulin-based cuticle extracellular matrix part Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen and cuticulin-based cuticle extracellular matrix part cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
mitochondrial sorting and assembly machinery complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the mitochondrial sorting and assembly machinery complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
TRBP containing complex (DICER, RPL7A, EIF6, MOV10 and subunits of the 60S ribosomal particle) Gene Setproteins in the TRBP containing complex (DICER, RPL7A, EIF6, MOV10 and subunits of the 60S ribosomal particle) protein complex from the CORUM Protein Complexes dataset. |
NRD complex (Nucleosome remodeling and deacetylation complex) Gene Setproteins in the NRD complex (Nucleosome remodeling and deacetylation complex) protein complex from the CORUM Protein Complexes dataset. |
6S methyltransferase and RG-containing Sm proteins complex Gene Setproteins in the 6S methyltransferase and RG-containing Sm proteins complex protein complex from the CORUM Protein Complexes dataset. |
Remodeling and spacing factor (RSF) complex Gene Setproteins in the Remodeling and spacing factor (RSF) complex protein complex from the CORUM Protein Complexes dataset. |
PBAF complex (Polybromo- and BAF containing complex) Gene Setproteins in the PBAF complex (Polybromo- and BAF containing complex) protein complex from the CORUM Protein Complexes dataset. |
Cleavage and polyadenylation factor (CPSF) Gene Setproteins in the Cleavage and polyadenylation factor (CPSF) protein complex from the CORUM Protein Complexes dataset. |
Apoptosis- and splicing-associated protein complex (ASAP-L), SAP18-RNPS1-Acinus-L Gene Setproteins in the Apoptosis- and splicing-associated protein complex (ASAP-L), SAP18-RNPS1-Acinus-L protein complex from the CORUM Protein Complexes dataset. |
Respiratory chain complex I (intermediate I/200kD and III/250kD), mitochondrial Gene Setproteins in the Respiratory chain complex I (intermediate I/200kD and III/250kD), mitochondrial protein complex from the CORUM Protein Complexes dataset. |
Nucleic and chromatin Fanconi complex Gene Setproteins in the Nucleic and chromatin Fanconi complex protein complex from the CORUM Protein Complexes dataset. |
Respiratory chain complex I (intermediate V/380kD and VI/480kD), mitochondrial Gene Setproteins in the Respiratory chain complex I (intermediate V/380kD and VI/480kD), mitochondrial protein complex from the CORUM Protein Complexes dataset. |
Apoptosis- and splicing-associated protein complex (ASAP-S), SAP18-RNPS1-Acinus-S Gene Setproteins in the Apoptosis- and splicing-associated protein complex (ASAP-S), SAP18-RNPS1-Acinus-S protein complex from the CORUM Protein Complexes dataset. |
ATP-utilizing chromatin assembly and remodeling factor (hACF) complex Gene Setproteins in the ATP-utilizing chromatin assembly and remodeling factor (hACF) complex protein complex from the CORUM Protein Complexes dataset. |
20S methylosome and RG-containing Sm protein complex Gene Setproteins in the 20S methylosome and RG-containing Sm protein complex protein complex from the CORUM Protein Complexes dataset. |
Amino Acids, Peptides, and Proteins Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Amino Acids, Peptides, and Proteins from the curated CTD Gene-Chemical Interactions dataset. |
Bile Acids and Salts Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Bile Acids and Salts from the curated CTD Gene-Chemical Interactions dataset. |
Prime and Bond NT Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Prime and Bond NT from the curated CTD Gene-Chemical Interactions dataset. |
drospirenone and ethinyl estradiol combination Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical drospirenone and ethinyl estradiol combination from the curated CTD Gene-Chemical Interactions dataset. |
Hypophosphatemic Rickets And Hyperparathyroidism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypophosphatemic Rickets And Hyperparathyroidism from the curated CTD Gene-Disease Associations dataset. |
Fibular hypoplasia and complex brachydactyly Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fibular hypoplasia and complex brachydactyly from the curated CTD Gene-Disease Associations dataset. |
Synovitis granulomatous with uveitis and cranial neuropathies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Synovitis granulomatous with uveitis and cranial neuropathies from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS from the curated CTD Gene-Disease Associations dataset. |
Hereditary Sensory and Motor Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Sensory and Motor Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Preaxial deficiency, postaxial polydactyly and hypospadias Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset. |
Combined Cellular And Humoral Immune Defects With Granulomas Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Cellular And Humoral Immune Defects With Granulomas from the curated CTD Gene-Disease Associations dataset. |
OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS from the curated CTD Gene-Disease Associations dataset. |
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia from the curated CTD Gene-Disease Associations dataset. |
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp from the curated CTD Gene-Disease Associations dataset. |
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis from the curated CTD Gene-Disease Associations dataset. |
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma from the curated CTD Gene-Disease Associations dataset. |
Microtia, Hearing Impairment, And Cleft Palate Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microtia, Hearing Impairment, And Cleft Palate from the curated CTD Gene-Disease Associations dataset. |
OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, Hereditary Sensory And Autonomic, Type IIB Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type IIB from the curated CTD Gene-Disease Associations dataset. |
Acromegaloid features, overgrowth, cleft palate, and hernia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Acromegaloid features, overgrowth, cleft palate, and hernia 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. |
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress from the curated CTD Gene-Disease Associations dataset. |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis from the curated CTD Gene-Disease Associations dataset. |
Craniosynostosis, anal anomalies, and porokeratosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Craniosynostosis, anal anomalies, and porokeratosis from the curated CTD Gene-Disease Associations dataset. |
Sacral defect and anterior sacral meningocele Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sacral defect and anterior sacral meningocele from the curated CTD Gene-Disease Associations dataset. |
Classical Lissencephalies and Subcortical Band Heterotopias Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Classical Lissencephalies and Subcortical Band Heterotopias from the curated CTD Gene-Disease Associations dataset. |
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness from the curated CTD Gene-Disease Associations dataset. |
Optic atrophy 1 and deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Optic atrophy 1 and deafness from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, hereditary motor and sensory, Russe type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, hereditary motor and sensory, Russe type from the curated CTD Gene-Disease Associations dataset. |
Blepharophimosis, Ptosis, and Epicanthus Inversus Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Blepharophimosis, Ptosis, and Epicanthus Inversus from the curated CTD Gene-Disease Associations dataset. |
Hypotrichosis And Recurrent Skin Vesicles Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypotrichosis And Recurrent Skin Vesicles from the curated CTD Gene-Disease Associations dataset. |
Signs and Symptoms, Digestive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Signs and Symptoms, Digestive from the curated CTD Gene-Disease Associations dataset. |
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia from the curated CTD Gene-Disease Associations dataset. |
Methylmalonic Aciduria and Homocystinuria, CblD Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic Aciduria and Homocystinuria, CblD Type from the curated CTD Gene-Disease Associations dataset. |
Head and Neck Neoplasms Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Head and Neck Neoplasms from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES from the curated CTD Gene-Disease Associations dataset. |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects from the curated CTD Gene-Disease Associations dataset. |
Cataract, Juvenile, With Microcornea And Glucosuria Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Juvenile, With Microcornea And Glucosuria from the curated CTD Gene-Disease Associations dataset. |
HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER from the curated CTD Gene-Disease Associations dataset. |
Venous Malformations, Multiple Cutaneous and Mucosal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Venous Malformations, Multiple Cutaneous and Mucosal from the curated CTD Gene-Disease Associations dataset. |
BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA from the curated CTD Gene-Disease Associations dataset. |
Postoperative Nausea and Vomiting Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Postoperative Nausea and Vomiting from the curated CTD Gene-Disease Associations dataset. |
Myopathy with lactic acidosis and sideroblastic anemia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy with lactic acidosis and sideroblastic anemia from the curated CTD Gene-Disease Associations dataset. |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells from the curated CTD Gene-Disease Associations dataset. |
Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Bifid Nose With Or Without Anorectal And Renal Anomalies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bifid Nose With Or Without Anorectal And Renal Anomalies from the curated CTD Gene-Disease Associations dataset. |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Cataracts, Facial Dysmorphism, And Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Corneal dystrophy and perceptive deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Corneal dystrophy and perceptive deafness from the curated CTD Gene-Disease Associations dataset. |
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Skeletal Dysplasia, and Abducens Palsy from the curated CTD Gene-Disease Associations dataset. |
Hypopituitarism and septooptic 'dysplasia' Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypopituitarism and septooptic 'dysplasia' 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. |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps from the curated CTD Gene-Disease Associations dataset. |
Aplasia of Lacrimal and Salivary Glands Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aplasia of Lacrimal and Salivary Glands from the curated CTD Gene-Disease Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA from the curated CTD Gene-Disease Associations dataset. |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria from the curated CTD Gene-Disease Associations dataset. |
Calcification of Joints and Arteries Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Calcification of Joints and Arteries from the curated CTD Gene-Disease Associations dataset. |
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis from the curated CTD Gene-Disease Associations dataset. |
Hereditary Motor And Sensory Neuropathy, Type IIC Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Motor And Sensory Neuropathy, Type IIC from the curated CTD Gene-Disease Associations dataset. |
Asthma, Nasal Polyps, And Aspirin Intolerance Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Asthma, Nasal Polyps, And Aspirin Intolerance from the curated CTD Gene-Disease Associations dataset. |
Neoplasms, Germ Cell and Embryonal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neoplasms, Germ Cell and Embryonal from the curated CTD Gene-Disease Associations dataset. |
Hereditary Motor And Sensory Neuropathy VI Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Motor And Sensory Neuropathy VI from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 from the curated CTD Gene-Disease Associations dataset. |
Wounds and Injuries Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Wounds and Injuries from the curated CTD Gene-Disease Associations dataset. |
Schizophrenia and Disorders with Psychotic Features Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Schizophrenia and Disorders with Psychotic Features from the curated CTD Gene-Disease Associations dataset. |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration from the curated CTD Gene-Disease Associations dataset. |
Sleep Initiation and Maintenance Disorders Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sleep Initiation and Maintenance Disorders from the curated CTD Gene-Disease Associations dataset. |
Methylmalonic Aciduria and Homocystinuria, CblF Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic Aciduria and Homocystinuria, CblF Type from the curated CTD Gene-Disease Associations dataset. |
Scaphocephaly, Maxillary Retrusion, And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Scaphocephaly, Maxillary Retrusion, And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Cataract and cardiomyopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract and cardiomyopathy from the curated CTD Gene-Disease Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA from the curated CTD Gene-Disease Associations dataset. |
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, hereditary motor and sensory, Okinawa type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, hereditary motor and sensory, Okinawa type from the curated CTD Gene-Disease Associations dataset. |
Spastic Paraplegia, Optic Atrophy, and Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia, Optic Atrophy, and Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Generalized Epilepsy and Paroxysmal Dyskinesia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Generalized Epilepsy and Paroxysmal Dyskinesia from the curated CTD Gene-Disease Associations dataset. |
Keratosis palmoplantaris with periodontopathia and onychogryposis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Keratosis palmoplantaris with periodontopathia and onychogryposis from the curated CTD Gene-Disease Associations dataset. |
Intracranial Embolism and Thrombosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Intracranial Embolism and Thrombosis from the curated CTD Gene-Disease Associations dataset. |
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY from the curated CTD Gene-Disease Associations dataset. |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract from the curated CTD Gene-Disease Associations dataset. |
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset. |
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma from the curated CTD Gene-Disease Associations dataset. |
Nevi and Melanomas Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nevi and Melanomas from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders from the curated CTD Gene-Disease Associations dataset. |
Attention Deficit and Disruptive Behavior Disorders Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Attention Deficit and Disruptive Behavior Disorders from the curated CTD Gene-Disease Associations dataset. |
Cardiomyopathy dilated with Woolly hair and keratoderma Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy dilated with Woolly hair and keratoderma from the curated CTD Gene-Disease Associations dataset. |
Optic atrophy and cataract, autosomal dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Optic atrophy and cataract, autosomal dominant from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 from the curated CTD Gene-Disease Associations dataset. |
Skeletal Defects, Genital Hypoplasia, And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Skeletal Defects, Genital Hypoplasia, And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypermanganesemia with Dystonia Polycythemia and Cirrhosis from the curated CTD Gene-Disease Associations dataset. |
Juvenile macular degeneration and hypotrichosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Juvenile macular degeneration and hypotrichosis from the curated CTD Gene-Disease Associations dataset. |
Mullerian Aplasia and Hyperandrogenism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mullerian Aplasia and Hyperandrogenism from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay from the curated CTD Gene-Disease Associations dataset. |
Esophageal and Gastric Varices Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Esophageal and Gastric Varices from the curated CTD Gene-Disease Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC from the curated CTD Gene-Disease Associations dataset. |
Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked from the curated CTD Gene-Disease Associations dataset. |
Carcinoma, squamous cell of head and neck Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carcinoma, squamous cell of head and neck from the curated CTD Gene-Disease Associations dataset. |
Polycythemia, primary familial and congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polycythemia, primary familial and congenital from the curated CTD Gene-Disease Associations dataset. |
Extravasation of Diagnostic and Therapeutic Materials Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Extravasation of Diagnostic and Therapeutic Materials from the curated CTD Gene-Disease Associations dataset. |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis from the curated CTD Gene-Disease Associations dataset. |
Knuckle pads, leuconychia and sensorineural deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Knuckle pads, leuconychia and sensorineural deafness from the curated CTD Gene-Disease Associations dataset. |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Hyperekplexia and Epilepsy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperekplexia and Epilepsy from the curated CTD Gene-Disease Associations dataset. |
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia from the curated CTD Gene-Disease Associations dataset. |
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails from the curated CTD Gene-Disease Associations dataset. |
Iris hypoplasia and glaucoma Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Iris hypoplasia and glaucoma from the curated CTD Gene-Disease Associations dataset. |
NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT from the curated CTD Gene-Disease Associations dataset. |
PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS from the curated CTD Gene-Disease Associations dataset. |
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nephropathy with Pretibial Epidermolysis Bullosa and Deafness from the curated CTD Gene-Disease Associations dataset. |
Lipoid Proteinosis of Urbach and Wiethe Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lipoid Proteinosis of Urbach and Wiethe from the curated CTD Gene-Disease Associations dataset. |
Hypertelorism with esophageal abnormality and hypospadias Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypertelorism with esophageal abnormality and hypospadias from the curated CTD Gene-Disease Associations dataset. |
Bone Fragility with Contractures, Arterial Rupture, and Deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bone Fragility with Contractures, Arterial Rupture, and Deafness from the curated CTD Gene-Disease Associations dataset. |
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis from the curated CTD Gene-Disease Associations dataset. |
Neoplasms, Glandular and Epithelial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neoplasms, Glandular and Epithelial from the curated CTD Gene-Disease Associations dataset. |
Ectodermal dysplasia, ectrodactyly, and macular dystrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal dysplasia, ectrodactyly, and macular dystrophy from the curated CTD Gene-Disease Associations dataset. |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness from the curated CTD Gene-Disease Associations dataset. |
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Early-onset ataxia with oculomotor apraxia and hypoalbuminemia from the curated CTD Gene-Disease Associations dataset. |
Pyogenic arthritis, pyoderma gangrenosum, and acne Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyogenic arthritis, pyoderma gangrenosum, and acne from the curated CTD Gene-Disease Associations dataset. |
Epidermolysa bullosa simplex and limb girdle muscular dystrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysa bullosa simplex and limb girdle muscular dystrophy from the curated CTD Gene-Disease Associations dataset. |
Cleft Palate, Isolated, And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cleft Palate, Isolated, And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Absent radii and thrombocytopenia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Absent radii and thrombocytopenia from the curated CTD Gene-Disease Associations dataset. |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset. |
HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS from the curated CTD Gene-Disease Associations dataset. |
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies from the curated CTD Gene-Disease Associations dataset. |
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease STAPES ANKYLOSIS WITH BROAD THUMB AND TOES from the curated CTD Gene-Disease Associations dataset. |