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muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease 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. |
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. |
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. |
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. |
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. |
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. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
becker muscular dystrophy; duchenne muscular dystrophy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease becker muscular dystrophy; duchenne muscular dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Heart Defects, Congenital, And Other Congenital Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Heart Defects, Congenital, And Other Congenital Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital muscular dystrophy with cataracts and intellectual disability Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital muscular dystrophy with cataracts and intellectual disability in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Eichsfeld type congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Eichsfeld type congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
muscular dystrophy, congenital, megaconial type Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital, megaconial type phenotype from the curated OMIM Gene-Disease Associations dataset. |
Eichsfeld Type Congenital Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Eichsfeld Type Congenital Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fukuyama Type Congenital Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fukuyama Type Congenital Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Megaconial type congenital muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Megaconial type congenital muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
muscular atrophy, spinal; spinal muscular atrophies of childhood; spinal muscular atrophy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease muscular atrophy, spinal; spinal muscular atrophies of childhood; spinal muscular atrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d phenotype from the curated OMIM Gene-Disease Associations dataset. |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Optic Disc Anomalies With Retinal And/Or Macular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Optic disc anomalies with retinal and/or macular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Optic disc anomalies with retinal and/or macular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neurodevelopmental disorder and structural brain anomalies Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neurodevelopmental disorder and structural brain anomalies phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Merosin deficient congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Merosin deficient congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Walker-Warburg congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Walker-Warburg congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Muscular dystrophy, congenital, due to ITGA7 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ullrich congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ullrich congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy due to partial LAMA2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Muscular dystrophy congenital, merosin negative Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular dystrophy congenital, merosin negative from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Congenital, 1B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, 1B from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Congenital, Merosin-Positive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, Merosin-Positive from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Congenital, Lmna-Related Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, Lmna-Related from the curated CTD Gene-Disease Associations dataset. |
ullrich congenital muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease ullrich congenital muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
fukuyama congenital muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease fukuyama congenital muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
ullrich congenital muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ullrich congenital muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
fukuyama congenital muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease fukuyama congenital muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
ullrich congenital muscular dystrophy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ullrich congenital muscular dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital muscular dystrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital muscular dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
muscular dystrophy, congenital, due to partial lama2 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital, due to partial lama2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, congenital, due to itga7 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital, due to itga7 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, congenital, merosin-positive Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital, merosin-positive phenotype from the curated OMIM Gene-Disease Associations dataset. |
ullrich congenital muscular dystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the ullrich congenital muscular dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, congenital, 1b Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital, 1b phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, congenital merosin-deficient Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital merosin-deficient phenotype from the curated OMIM Gene-Disease Associations dataset. |
Congenital Muscular Dystrophy (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Muscular Dystrophy (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Walker-Warburg Congenital Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Walker-Warburg Congenital Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ullrich Congenital Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ullrich Congenital Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Hereditary Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Hereditary Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital muscular dystrophy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital merosin-deficient muscular dystrophy 1A Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital merosin-deficient muscular dystrophy 1A from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Fukuyama congenital muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Fukuyama congenital muscular dystrophy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital muscular dystrophy due to LMNA mutation Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital muscular dystrophy due to LMNA mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ullrich congenital muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ullrich congenital muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Fukuyama congenital muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Fukuyama congenital muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital merosin-deficient muscular dystrophy 1A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital merosin-deficient muscular dystrophy 1A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital muscular dystrophy due to LMNA mutation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital muscular dystrophy due to LMNA mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital muscular dystrophy due to integrin alpha-7 deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital muscular dystrophy due to integrin alpha-7 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital muscular dystrophy 1B Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital muscular dystrophy 1B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ullrich congenital muscular dystrophy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ullrich congenital muscular dystrophy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Walker-Warburg congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Walker-Warburg congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Merosin deficient congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Merosin deficient congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital Muscular Dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital Muscular Dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital muscular dystrophy due to partial LAMA2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital muscular dystrophy due to LMNA mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital muscular dystrophy due to LMNA mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ullrich congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ullrich congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital muscular dystrophy due to integrin alpha-7 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital muscular dystrophy due to integrin alpha-7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 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. |
{congenital anomalies of kidney and urinary tract, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {congenital anomalies of kidney and urinary tract, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies phenotype from the curated OMIM 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. |
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. |
Congenital anomalies of kidney and urinary tract Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital anomalies of kidney and urinary tract 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. |
Common Congenital Anomalies of the Kidney and Urinary Tract Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Common Congenital Anomalies of the Kidney and Urinary Tract phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
DCHS1-related congenital anomalies of the kidney and urinary tract Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the DCHS1-related congenital anomalies of the kidney and urinary tract phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital heart disease (anomalies of thoracic arteries and veins) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Congenital heart disease (anomalies of thoracic arteries and veins) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 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. |
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. |
Duchenne And Becker Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Duchenne And Becker Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Duchenne Muscular Dystrophy, Mental Retardation, And Absence Of Erg B-Wave Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Duchenne Muscular Dystrophy, Mental Retardation, And Absence Of Erg B-Wave in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Duchenne and Becker muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Duchenne and Becker muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Limb-girdle muscular dystrophy, type 2S Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 2S phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 2L Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 2L phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 2B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 2F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 2F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 2E Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 2E phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 2D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe autosomal recessive muscular dystrophy of childhood - North African type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe autosomal recessive muscular dystrophy of childhood - North African type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 1F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 1E Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 1E phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H from the curated CTD Gene-Disease Associations dataset. |
Limb-girdle muscular dystrophy type 2F Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Limb-girdle muscular dystrophy type 2F from the curated CTD Gene-Disease Associations dataset. |
Limb-girdle muscular dystrophy, type 2C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Limb-girdle muscular dystrophy, type 2C from the curated CTD Gene-Disease Associations dataset. |
Limb-girdle muscular dystrophy, type 2B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Limb-girdle muscular dystrophy, type 2B from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Limb-Girdle, Type 2J Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Limb-Girdle, Type 2J from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Limb-Girdle, Type 2L Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Limb-Girdle, Type 2L from the curated CTD Gene-Disease Associations dataset. |
Limb-girdle muscular dystrophy, type 1B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Limb-girdle muscular dystrophy, type 1B from the curated CTD Gene-Disease Associations dataset. |
Limb-girdle muscular dystrophy type 2H Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Limb-girdle muscular dystrophy type 2H from the curated CTD Gene-Disease Associations dataset. |
Limb-girdle muscular dystrophy, type 2E Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Limb-girdle muscular dystrophy, type 2E from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Limb-Girdle, Type 1C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Limb-Girdle, Type 1C from the curated CTD Gene-Disease Associations dataset. |
Muscular dystrophy, limb-girdle, type 1A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular dystrophy, limb-girdle, type 1A from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Limb-Girdle, Type 2G Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Limb-Girdle, Type 2G from the curated CTD Gene-Disease Associations dataset. |
Limb-girdle muscular dystrophy type 2A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Limb-girdle muscular dystrophy type 2A from the curated CTD Gene-Disease Associations dataset. |
Limb-Girdle Muscular Dystrophy, Type 1G Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Limb-Girdle Muscular Dystrophy, Type 1G from the curated CTD Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 2c Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 2c phenotype from the curated OMIM Gene-Disease Associations dataset. |
?muscular dystrophy, limb-girdle, type 2r Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?muscular dystrophy, limb-girdle, type 2r phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 2q Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 2q phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 2s Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 2s phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 2d Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 2d phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 2e Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 2e phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 2f Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 2f phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 2g Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 2g phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 2a Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 2a phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 2b Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 2b phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 2l Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 2l phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 2h Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 2h phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 2j Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 2j phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 1h Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 1h phenotype from the curated OMIM Gene-Disease Associations dataset. |
limb-girdle muscular dystrophy, type 1g Gene SetFrom OMIM Gene-Disease Associations genes associated with the limb-girdle muscular dystrophy, type 1g phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type ic Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type ic phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 1e Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 1e phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 1f Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 1f phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 1a Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 1a phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 1b Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 1b phenotype from the curated OMIM Gene-Disease Associations dataset. |
Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Limb-Girdle Muscular Dystrophy, Type 1G (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Limb-Girdle Muscular Dystrophy, Type 1G (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Dominant Limb Girdle Muscular Dystrophy Type 1A Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Dominant Limb Girdle Muscular Dystrophy Type 1A in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2D Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2D in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2E Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2E in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant limb-girdle muscular dystrophy type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant limb-girdle muscular dystrophy type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2C Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2C in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2S Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2S in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2B Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2H Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2H in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant limb-girdle muscular dystrophy type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant limb-girdle muscular dystrophy type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2M Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2M in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2K Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2K in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2X Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2X in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2J Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2J in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2G Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2G in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2L Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2L in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2I Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2I in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2F Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2F in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2Q Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2Q in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2Y Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2Y in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2W Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2W in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2T Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2T in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant limb-girdle muscular dystrophy type 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant limb-girdle muscular dystrophy type 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2O Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2O in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2N Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2N in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2U Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2U in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant limb-girdle muscular dystrophy type 1H Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant limb-girdle muscular dystrophy type 1H in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2P Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2P in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2Z Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2Z in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 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. |
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. |
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. |
brain concussion; brain injuries; brain ischemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brain concussion; brain injuries; brain ischemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
eye infections, fungal; fungal eye infections; histoplasmosis; neovascularization, pathologic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease eye infections, fungal; fungal eye infections; histoplasmosis; neovascularization, pathologic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
eye neoplasms; melanoma; tumour of eye Gene SetFrom GAD Gene-Disease Associations genes associated with the disease eye neoplasms; melanoma; tumour of eye in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Eye-eye photoreceptor cell Gene SetFrom Tabula Sapiens Gene-Cell Associations genes with high or low expression in Eye-eye photoreceptor cell relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset. |
Exploratory eye movement dysfunction in schizophrenia (number of eye fixations) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Exploratory eye movement dysfunction in schizophrenia (number of eye fixations) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
brain small vessel disease with or without ocular anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the brain small vessel disease with or without ocular anomalies phenotype from the curated OMIM Gene-Disease 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. |
T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease T-cell immunodeficiency, congenital alopecia and nail dystrophy from the curated CTD Gene-Disease Associations dataset. |
t-cell immunodeficiency, congenital alopecia, and nail dystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the t-cell immunodeficiency, congenital alopecia, and nail dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
T-cell immunodeficiency, congenital alopecia, and nail dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease T-cell immunodeficiency, congenital alopecia, and nail dystrophy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
T-cell immunodeficiency, congenital alopecia, and nail dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease T-cell immunodeficiency, congenital alopecia, and nail dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Testicular anomalies with or without congenital heart disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Testicular anomalies with or without congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
cardiomyopathy; heart anomalies, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiomyopathy; heart anomalies, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart anomalies, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart anomalies, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital anomalies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital anomalies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital anomalies; cleft lip with or without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital anomalies; cleft lip with or without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital anomalies; renal disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital anomalies; renal disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart anomalies, congenital; pulmonary hypertension Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart anomalies, congenital; pulmonary hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele Gene SetFrom GAD Gene-Disease Associations genes associated with the disease thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart anomalies, congenital; cleft lip with cleft palate; cleft lip without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart anomalies, congenital; cleft lip with cleft palate; cleft lip without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
?testicular anomalies with or without congenital heart disease Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?testicular anomalies with or without congenital heart disease phenotype from the curated OMIM Gene-Disease Associations dataset. |
?multiple congenital anomalies-hypotonia-seizures syndrome 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?multiple congenital anomalies-hypotonia-seizures syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
multiple congenital anomalies-hypotonia-seizures syndrome 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the multiple congenital anomalies-hypotonia-seizures syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
multiple congenital anomalies-hypotonia-seizures syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the multiple congenital anomalies-hypotonia-seizures syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Adnp-Related Multiple Congenital Anomalies, Intellectual Disability, Autism Spectrum Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adnp-Related Multiple Congenital Anomalies, Intellectual Disability, Autism Spectrum Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Linear Skin Defects With Multiple Congenital Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Linear Skin Defects With Multiple Congenital Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Other Congenital Anomalies Of Nervous System Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Other Congenital Anomalies Of Nervous System in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Testicular Anomalies With Or Without Congenital Heart Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Testicular Anomalies With Or Without Congenital Heart Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Linear skin defects with multiple congenital anomalies 1 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Linear skin defects with multiple congenital anomalies 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Multiple congenital anomalies-hypotonia-seizures syndrome 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Multiple congenital anomalies-hypotonia-seizures syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Multiple congenital anomalies-hypotonia-seizures syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Multiple congenital anomalies-hypotonia-seizures syndrome 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Multiple congenital anomalies-hypotonia-seizures syndrome 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Linear skin defects with multiple congenital anomalies 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Linear skin defects with multiple congenital anomalies 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Linear skin defects with multiple congenital anomalies 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Linear skin defects with multiple congenital anomalies 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Linear skin defects with multiple congenital anomalies 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Linear skin defects with multiple congenital anomalies 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
KAT6B-related multiple congenital anomalies syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the KAT6B-related multiple congenital anomalies syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital heart anomalies Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital heart anomalies phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Multiple congenital anomalies/dysmorphic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Multiple congenital anomalies/dysmorphic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Multiple congenital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Multiple congenital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Multiple congenital anomalies-neurodevelopmental syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Multiple congenital anomalies-neurodevelopmental syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
muscular atrophy, spinal; spinal muscular atrophy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease muscular atrophy, spinal; spinal muscular atrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
muscular dystrophies; muscular dystrophies, limb-girdle Gene SetFrom GAD Gene-Disease Associations genes associated with the disease muscular dystrophies; muscular dystrophies, limb-girdle in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Peroneal Muscular Atrophy (Axonal Type) (Hypertrophic Type) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Peroneal Muscular Atrophy (Axonal Type) (Hypertrophic Type) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bull'S Eye Macular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bull'S Eye Macular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Duchenne muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Duchenne muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Becker muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Becker muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Benign scapuloperoneal muscular dystrophy with cardiomyopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Benign scapuloperoneal muscular dystrophy with cardiomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Facioscapulohumeral muscular dystrophy 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Facioscapulohumeral muscular dystrophy 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Emery-dreifuss muscular dystrophy 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Emery-dreifuss muscular dystrophy 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Emery-dreifuss muscular dystrophy 4, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Emery-dreifuss muscular dystrophy 4, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Emery-Dreifuss muscular dystrophy, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Emery-Dreifuss muscular dystrophy, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Emery-Dreifuss muscular dystrophy 7, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Emery-Dreifuss muscular dystrophy 7, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Emery-Dreifuss muscular dystrophy 1, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Emery-Dreifuss muscular dystrophy 1, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Miyoshi Muscular Dystrophy 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Miyoshi Muscular Dystrophy 2 from the curated CTD Gene-Disease Associations dataset. |
Miyoshi Muscular Dystrophy 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Miyoshi Muscular Dystrophy 3 from the curated CTD Gene-Disease Associations dataset. |
Facioscapulohumeral muscular dystrophy 1a Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Facioscapulohumeral muscular dystrophy 1a from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Animal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Animal from the curated CTD Gene-Disease Associations dataset. |
Scleroatonic muscular dystrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Scleroatonic muscular dystrophy from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Emery-Dreifuss Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Emery-Dreifuss from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Facioscapulohumeral Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Facioscapulohumeral from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Oculopharyngeal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Oculopharyngeal from the curated CTD Gene-Disease Associations dataset. |
Facioscapulohumeral Muscular Dystrophy 1B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Facioscapulohumeral Muscular Dystrophy 1B from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Duchenne Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Duchenne from the curated CTD Gene-Disease Associations dataset. |
oculopharyngeal muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease oculopharyngeal muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
limb-girdle muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease limb-girdle muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
facioscapulohumeral muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease facioscapulohumeral muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
emery-dreifuss muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease emery-dreifuss muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
distal muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease distal muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
oculopharyngeal muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease oculopharyngeal muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
facioscapulohumeral muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease facioscapulohumeral muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
limb-girdle muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease limb-girdle muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
becker muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease becker muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
emery-dreifuss muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease emery-dreifuss muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
duchenne muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease duchenne muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
muscular dystrophy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease muscular dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
spinocerebellar ataxia; muscular dystrophy; neuropathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease spinocerebellar ataxia; muscular dystrophy; neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental retardation; muscular dystrophy, duchenne Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental retardation; muscular dystrophy, duchenne in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
muscular dystrophy, oculopharyngeal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease muscular dystrophy, oculopharyngeal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
duchenne muscular dystrophy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease duchenne muscular dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
muscular dystrophy, duchenne Gene SetFrom GAD Gene-Disease Associations genes associated with the disease muscular dystrophy, duchenne in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Duchenne muscular dystrophy (DMD)_Extraocular muscle_GSE1472 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Duchenne muscular dystrophy (DMD)_Extraocular muscle_GSE1472 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
Duchenne muscular dystrophy (DMD)_Muscle - Striated (Skeletal) - Diaphragm (MMHCC)_GSE1026 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Duchenne muscular dystrophy (DMD)_Muscle - Striated (Skeletal) - Diaphragm (MMHCC)_GSE1026 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
Duchenne muscular dystrophy (DMD)_Extraocular muscle_GSE1008 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Duchenne muscular dystrophy (DMD)_Extraocular muscle_GSE1008 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
Duchenne muscular dystrophy (DMD)_Muscle - Striated (Skeletal) (MMHCC)_GSE1025 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Duchenne muscular dystrophy (DMD)_Muscle - Striated (Skeletal) (MMHCC)_GSE1025 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
limb-girdle muscular dystrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the limb-girdle muscular dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
muscular dystrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the muscular dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Muscular Dystrophy, Emery-Dreifuss Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Muscular Dystrophy, Emery-Dreifuss phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Muscular Dystrophy, Facioscapulohumeral Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Muscular Dystrophy, Facioscapulohumeral phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Muscular Dystrophy, Duchenne Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Muscular Dystrophy, Duchenne phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
fascioscapulohumeral muscular dystrophy 2, digenic Gene SetFrom OMIM Gene-Disease Associations genes associated with the fascioscapulohumeral muscular dystrophy 2, digenic phenotype from the curated OMIM Gene-Disease Associations dataset. |
emery-dreifuss muscular dystrophy 4, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the emery-dreifuss muscular dystrophy 4, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
miyoshi muscular dystrophy 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the miyoshi muscular dystrophy 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
emery-dreifuss muscular dystrophy 2, ad Gene SetFrom OMIM Gene-Disease Associations genes associated with the emery-dreifuss muscular dystrophy 2, ad phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, rigid spine, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, rigid spine, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
tibial muscular dystrophy, tardive Gene SetFrom OMIM Gene-Disease Associations genes associated with the tibial muscular dystrophy, tardive phenotype from the curated OMIM Gene-Disease Associations dataset. |
oculopharyngeal muscular dystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the oculopharyngeal muscular dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
miyoshi muscular dystrophy 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the miyoshi muscular dystrophy 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
miyoshi muscular dystrophy 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the miyoshi muscular dystrophy 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
duchenne muscular dystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the duchenne muscular dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
emery-dreifuss muscular dystrophy 3, ar Gene SetFrom OMIM Gene-Disease Associations genes associated with the emery-dreifuss muscular dystrophy 3, ar phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy with rimmed vacuoles Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy with rimmed vacuoles phenotype from the curated OMIM Gene-Disease Associations dataset. |
emery-dreifuss muscular dystrophy 6, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the emery-dreifuss muscular dystrophy 6, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy with epidermolysis bullosa simplex Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy with epidermolysis bullosa simplex phenotype from the curated OMIM Gene-Disease Associations dataset. |
emery-dreifuss muscular dystrophy 1, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the emery-dreifuss muscular dystrophy 1, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
becker muscular dystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the becker muscular dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
emery-dreifuss muscular dystrophy 5, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the emery-dreifuss muscular dystrophy 5, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
emery-dreifuss muscular dystrophy 7, ad Gene SetFrom OMIM Gene-Disease Associations genes associated with the emery-dreifuss muscular dystrophy 7, ad phenotype from the curated OMIM Gene-Disease Associations dataset. |
Emery-Dreifuss muscular dystrophy Gene SetFrom PhosphoSitePlus Phosphosite-Disease Associations proteins associated with the disease Emery-Dreifuss muscular dystrophy from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset. |
Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Becker Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Becker Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Duchenne Or Becker Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Duchenne Or Becker Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Limb-Girdle Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Limb-Girdle Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Miyoshi Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Miyoshi Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
X-Linked Emery-Dreifuss Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease X-Linked Emery-Dreifuss Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Recessive Limb Girdle Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Limb Girdle Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Facioscapulohumeral Muscular Dystrophy 1B Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Facioscapulohumeral Muscular Dystrophy 1B in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Tibial Muscular Dystrophy, Tardive Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Tibial Muscular Dystrophy, Tardive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Late-Onset Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Late-Onset Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Intermediate Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Intermediate Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Childhood Autosomal Recessive Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Childhood Autosomal Recessive Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe [Duchenne] Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe [Duchenne] Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Facioscapulohumeral Muscular Dystrophy 1A Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Facioscapulohumeral Muscular Dystrophy 1A in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Emery-Dreifuss Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Emery-Dreifuss Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Emery-Dreifuss Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ocular Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ocular Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Tibial Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Tibial Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Muscular Dystrophy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Affected pathways in Duchenne muscular dystrophy Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Affected pathways in Duchenne muscular dystrophy pathway from the WikiPathways Pathways 2024 dataset. |
Muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Muscular dystrophy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
limb-girdle muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease limb-girdle muscular dystrophy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Emery-Dreifuss muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Emery-Dreifuss muscular dystrophy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Miyoshi muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Miyoshi muscular dystrophy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Oculopharyngeal muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Oculopharyngeal muscular dystrophy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Facioscapulohumeral muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Facioscapulohumeral muscular dystrophy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Tibial muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Tibial muscular dystrophy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Duchenne muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Duchenne muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Becker muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Becker muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
limb-girdle muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease limb-girdle muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Miyoshi muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Miyoshi muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Facioscapulohumeral muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Facioscapulohumeral muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Oculopharyngeal muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Oculopharyngeal muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Emery-Dreifuss muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Emery-Dreifuss muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant limb-girdle muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant limb-girdle muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Miyoshi muscular dystrophy 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Miyoshi muscular dystrophy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Facioscapulohumeral muscular dystrophy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Facioscapulohumeral muscular dystrophy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Facioscapulohumeral muscular dystrophy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Facioscapulohumeral muscular dystrophy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant Emery-Dreifuss muscular dystrophy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant Emery-Dreifuss muscular dystrophy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Tibial muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Tibial muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant Emery-Dreifuss muscular dystrophy 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant Emery-Dreifuss muscular dystrophy 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked Emery-Dreifuss muscular dystrophy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked Emery-Dreifuss muscular dystrophy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant Emery-Dreifuss muscular dystrophy 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant Emery-Dreifuss muscular dystrophy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked Emery-Dreifuss muscular dystrophy 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked Emery-Dreifuss muscular dystrophy 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant Emery-Dreifuss muscular dystrophy 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant Emery-Dreifuss muscular dystrophy 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive Emery-Dreifuss muscular dystrophy 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive Emery-Dreifuss muscular dystrophy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Epidermolysis bullosa simplex with muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Epidermolysis bullosa simplex with muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Rigid spine muscular dystrophy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Rigid spine muscular dystrophy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Miyoshi muscular dystrophy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Miyoshi muscular dystrophy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Facioscapulohumeral muscular dystrophy 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Facioscapulohumeral muscular dystrophy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Facioscapulohumeral muscular dystrophy 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Facioscapulohumeral muscular dystrophy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive limb-girdle muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Miyoshi muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Miyoshi muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
ANO5-related muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the ANO5-related muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Emery-Dreifuss muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Emery-Dreifuss muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Limb-girdle muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Limb-girdle muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Eichsfeld muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Eichsfeld muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Facioscapulohumeral muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Facioscapulohumeral muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked Emery-Dreifuss muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked Emery-Dreifuss muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Duchenne muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Duchenne muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Becker muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Becker muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Tibial muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Tibial muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
LAMA2-related muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the LAMA2-related muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant limb-girdle muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant limb-girdle muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intermediate muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intermediate muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Oculopharyngeal muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Oculopharyngeal muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Limb-girdle muscular dystrophy due to POMK deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Limb-girdle muscular dystrophy due to POMK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Megaconial muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Megaconial muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked scapuloperoneal muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked scapuloperoneal muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Scapulohumeral muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Scapulohumeral muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
pituitary anomalies and holoprosencephaly-like features. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease pituitary anomalies and holoprosencephaly-like features. in GWAS and other genetic association datasets from the GAD 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. |
robin sequence with cleft mandible and limb anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the robin sequence with cleft mandible and limb anomalies 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. |
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. |
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. |
craniosynostosis and dental anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniosynostosis and dental anomalies phenotype from the curated OMIM Gene-Disease Associations dataset. |
corneal opacification and other ocular anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the corneal opacification and other ocular anomalies phenotype from the curated OMIM Gene-Disease Associations dataset. |
bifid nose with or without anorectal and renal anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the bifid nose with or without anorectal and renal anomalies phenotype from the curated OMIM Gene-Disease Associations dataset. |
Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) Gene Setproteins participating in the Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) pathway from the Reactome Pathways 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. |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies in GWAS and other genetic association datasets from the DisGeNET 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. |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anterior Segment Anomalies And Cataract Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Anterior Segment Anomalies And Cataract 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. |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies 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. |
B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations 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. |
Cardiac, Facial, And Digital Anomalies With Developmental Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cardiac, Facial, And Digital Anomalies With Developmental Delay 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. |
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. |
Vertebral hypersegmentation and orofacial anomalies Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Vertebral hypersegmentation and orofacial anomalies 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. |
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Intellectual developmental disorder with ocular anomalies and distinctive facial features Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Intellectual developmental disorder with ocular anomalies and distinctive facial features 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. |
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. |
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. |
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. |
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. |
Craniosynostosis and dental anomalies Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Craniosynostosis and dental anomalies phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neuromuscular disease and ocular or auditory anomalies Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neuromuscular disease and ocular or auditory anomalies phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SLIT3-related anomalies of the kidney and urinary tract Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SLIT3-related anomalies of the kidney and urinary tract phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Muscle eye brain disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Muscle eye brain disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Muscle Eye Brain Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Muscle Eye Brain Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Muscle eye brain disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Muscle eye brain disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
eye diseases, hereditary; genetic diseases, x-linked; nystagmus, congenital; nystagmus, pathologic; strabismus Gene SetFrom GAD Gene-Disease Associations genes associated with the disease eye diseases, hereditary; genetic diseases, x-linked; nystagmus, congenital; nystagmus, pathologic; strabismus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Congenital Anomaly Of Anterior Segment Of Eye Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Anomaly Of Anterior Segment Of Eye in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Other Congenital Malformations Of Anterior Segment Of Eye Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Other Congenital Malformations Of Anterior Segment Of Eye in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Eye Disorders (Excl Glaucoma) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Eye Disorders (Excl Glaucoma) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
brain diseases; muscular dystrophies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brain diseases; muscular dystrophies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations 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. |
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 muscular hypertrophy-cerebral syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular hypertrophy-cerebral syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinal Muscular Atrophy, Distal, Congenital Nonprogressive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinal Muscular Atrophy, Distal, Congenital Nonprogressive from the curated CTD Gene-Disease Associations dataset. |
congenital muscular torticollis Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital muscular torticollis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
spinal muscular atrophy, distal, congenital nonprogressive Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinal muscular atrophy, distal, congenital nonprogressive phenotype from the curated OMIM Gene-Disease Associations dataset. |
Congenital Muscular Hypertrophy-Cerebral Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Muscular Hypertrophy-Cerebral Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital muscular hypertrophy-cerebral syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital muscular hypertrophy-cerebral syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 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. |
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. |
Congenital Stromal Corneal Dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital Stromal Corneal Dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corneal Dystrophy, Congenital Stromal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Corneal Dystrophy, Congenital Stromal from the curated CTD Gene-Disease Associations dataset. |
congenital corneal dystrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital corneal dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
nonprogressive congenital retinal dystrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the nonprogressive congenital retinal dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
corneal dystrophy, congenital stromal Gene SetFrom OMIM Gene-Disease Associations genes associated with the corneal dystrophy, congenital stromal phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypotrichosis, congenital, with juvenile macular dystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypotrichosis, congenital, with juvenile macular dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
Congenital Myotonic Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Myotonic Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Corneal Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Corneal Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital stromal corneal dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital stromal corneal dystrophy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital stromal corneal dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital stromal corneal dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital hypotrichosis with juvenile macular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital hypotrichosis with juvenile macular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital hereditary endothelial dystrophy of cornea Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital hereditary endothelial dystrophy of cornea in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital hereditary endothelial dystrophy of cornea Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital hereditary endothelial dystrophy of cornea phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital stromal corneal dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital stromal corneal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 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. |
eye and adnexa disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease eye and adnexa disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
eye and adnexa disease Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease eye and adnexa disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
eye and adnexa disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease eye and adnexa disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
eye and adnexa disease Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease eye and adnexa disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
microtia with nasolacrimal duct imperforation and eye coloboma Gene SetFrom OMIM Gene-Disease Associations genes associated with the microtia with nasolacrimal duct imperforation and eye coloboma phenotype from the curated OMIM Gene-Disease Associations dataset. |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Human - Fetal Development - L2 - Eye-Retinal progenitors and Muller glia Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Fetal Development - L2 - Eye-Retinal progenitors and Muller glia cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Fetal Development - L2 - Eye-Corneal and conjunctival epithelial cells Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Fetal Development - L2 - Eye-Corneal and conjunctival epithelial cells cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Neurodevelopmental disorder with eye movement abnormalities and ataxia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neurodevelopmental disorder with eye movement abnormalities and ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Skin, hair and eye pigmentation (multivariate analysis) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Skin, hair and eye pigmentation (multivariate analysis) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
retina development in camera-type eye Gene SetFrom GO Biological Process Annotations 2015 genes participating in the retina development in camera-type eye biological process from the curated GO Biological Process Annotations 2015 dataset. |
post-embryonic retina morphogenesis in camera-type eye Gene SetFrom GO Biological Process Annotations 2015 genes participating in the post-embryonic retina morphogenesis in camera-type eye biological process from the curated GO Biological Process Annotations 2015 dataset. |
eyelid development in camera-type eye Gene SetFrom GO Biological Process Annotations 2015 genes participating in the eyelid development in camera-type eye biological process from the curated GO Biological Process Annotations 2015 dataset. |
camera-type eye photoreceptor cell fate commitment Gene SetFrom GO Biological Process Annotations 2015 genes participating in the camera-type eye photoreceptor cell fate commitment biological process from the curated GO Biological Process Annotations 2015 dataset. |
optic cup morphogenesis involved in camera-type eye development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the optic cup morphogenesis involved in camera-type eye development biological process from the curated GO Biological Process Annotations 2015 dataset. |
embryonic camera-type eye morphogenesis Gene SetFrom GO Biological Process Annotations 2015 genes participating in the embryonic camera-type eye morphogenesis biological process from the curated GO Biological Process Annotations 2015 dataset. |
cornea development in camera-type eye Gene SetFrom GO Biological Process Annotations 2015 genes participating in the cornea development in camera-type eye biological process from the curated GO Biological Process Annotations 2015 dataset. |
camera-type eye development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the camera-type eye development biological process from the curated GO Biological Process Annotations 2015 dataset. |
embryonic retina morphogenesis in camera-type eye Gene SetFrom GO Biological Process Annotations 2015 genes participating in the embryonic retina morphogenesis in camera-type eye biological process from the curated GO Biological Process Annotations 2015 dataset. |
camera-type eye morphogenesis Gene SetFrom GO Biological Process Annotations 2015 genes participating in the camera-type eye morphogenesis biological process from the curated GO Biological Process Annotations 2015 dataset. |
embryonic camera-type eye development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the embryonic camera-type eye development biological process from the curated GO Biological Process Annotations 2015 dataset. |
retina vasculature development in camera-type eye Gene SetFrom GO Biological Process Annotations 2015 genes participating in the retina vasculature development in camera-type eye biological process from the curated GO Biological Process Annotations 2015 dataset. |
camera-type eye photoreceptor cell differentiation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the camera-type eye photoreceptor cell differentiation biological process from the curated GO Biological Process Annotations 2015 dataset. |
retina morphogenesis in camera-type eye Gene SetFrom GO Biological Process Annotations 2015 genes participating in the retina morphogenesis in camera-type eye biological process from the curated GO Biological Process Annotations 2015 dataset. |
lens development in camera-type eye Gene SetFrom GO Biological Process Annotations 2015 genes participating in the lens development in camera-type eye biological process from the curated GO Biological Process Annotations 2015 dataset. |
embryonic camera-type eye formation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the embryonic camera-type eye formation biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of retina development in camera-type eye Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of retina development in camera-type eye biological process from the curated GO Biological Process Annotations 2015 dataset. |
retina vasculature morphogenesis in camera-type eye Gene SetFrom GO Biological Process Annotations 2015 genes participating in the retina vasculature morphogenesis in camera-type eye biological process from the curated GO Biological Process Annotations 2015 dataset. |
lens morphogenesis in camera-type eye Gene SetFrom GO Biological Process Annotations 2015 genes participating in the lens morphogenesis in camera-type eye biological process from the curated GO Biological Process Annotations 2015 dataset. |
optic cup formation involved in camera-type eye development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the optic cup formation involved in camera-type eye development biological process from the curated GO Biological Process Annotations 2015 dataset. |
optic placode formation involved in camera-type eye formation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the optic placode formation involved in camera-type eye formation biological process from the curated GO Biological Process Annotations 2015 dataset. |
post-embryonic camera-type eye morphogenesis Gene SetFrom GO Biological Process Annotations 2015 genes participating in the post-embryonic camera-type eye morphogenesis biological process from the curated GO Biological Process Annotations 2015 dataset. |
lens induction in camera-type eye Gene SetFrom GO Biological Process Annotations 2015 genes participating in the lens induction in camera-type eye biological process from the curated GO Biological Process Annotations 2015 dataset. |
post-embryonic camera-type eye development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the post-embryonic camera-type eye development biological process from the curated GO Biological Process Annotations 2015 dataset. |
camera-type eye photoreceptor cell differentiation Gene SetFrom GO Biological Process Annotations 2023 genes participating in the camera-type eye photoreceptor cell differentiation biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of vasculature development involved in avascular cornea development in camera-type eye Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of vasculature development involved in avascular cornea development in camera-type eye biological process from the curated GO Biological Process Annotations 2023 dataset. |
embryonic retina morphogenesis in camera-type eye Gene SetFrom GO Biological Process Annotations 2023 genes participating in the embryonic retina morphogenesis in camera-type eye biological process from the curated GO Biological Process Annotations 2023 dataset. |
embryonic camera-type eye morphogenesis Gene SetFrom GO Biological Process Annotations 2023 genes participating in the embryonic camera-type eye morphogenesis biological process from the curated GO Biological Process Annotations 2023 dataset. |
retina vasculature development in camera-type eye Gene SetFrom GO Biological Process Annotations 2023 genes participating in the retina vasculature development in camera-type eye biological process from the curated GO Biological Process Annotations 2023 dataset. |
camera-type eye development Gene SetFrom GO Biological Process Annotations 2023 genes participating in the camera-type eye development biological process from the curated GO Biological Process Annotations 2023 dataset. |
camera-type eye morphogenesis Gene SetFrom GO Biological Process Annotations 2023 genes participating in the camera-type eye morphogenesis biological process from the curated GO Biological Process Annotations 2023 dataset. |
embryonic camera-type eye development Gene SetFrom GO Biological Process Annotations 2023 genes participating in the embryonic camera-type eye development biological process from the curated GO Biological Process Annotations 2023 dataset. |
optic cup morphogenesis involved in camera-type eye development Gene SetFrom GO Biological Process Annotations 2023 genes participating in the optic cup morphogenesis involved in camera-type eye development biological process from the curated GO Biological Process Annotations 2023 dataset. |
lens placode formation involved in camera-type eye formation Gene SetFrom GO Biological Process Annotations 2023 genes participating in the lens placode formation involved in camera-type eye formation biological process from the curated GO Biological Process Annotations 2023 dataset. |
avascular cornea development in camera-type eye Gene SetFrom GO Biological Process Annotations 2023 genes participating in the avascular cornea development in camera-type eye biological process from the curated GO Biological Process Annotations 2023 dataset. |
camera-type eye photoreceptor cell differentiation Gene SetFrom GO Biological Process Annotations 2025 genes participating in the camera-type eye photoreceptor cell differentiation biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of vasculature development involved in avascular cornea development in camera-type eye Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of vasculature development involved in avascular cornea development in camera-type eye biological process from the curated GO Biological Process Annotations 2025 dataset. |
embryonic retina morphogenesis in camera-type eye Gene SetFrom GO Biological Process Annotations 2025 genes participating in the embryonic retina morphogenesis in camera-type eye biological process from the curated GO Biological Process Annotations 2025 dataset. |
embryonic camera-type eye morphogenesis Gene SetFrom GO Biological Process Annotations 2025 genes participating in the embryonic camera-type eye morphogenesis biological process from the curated GO Biological Process Annotations 2025 dataset. |
retina vasculature development in camera-type eye Gene SetFrom GO Biological Process Annotations 2025 genes participating in the retina vasculature development in camera-type eye biological process from the curated GO Biological Process Annotations 2025 dataset. |
camera-type eye development Gene SetFrom GO Biological Process Annotations 2025 genes participating in the camera-type eye development biological process from the curated GO Biological Process Annotations 2025 dataset. |
camera-type eye morphogenesis Gene SetFrom GO Biological Process Annotations 2025 genes participating in the camera-type eye morphogenesis biological process from the curated GO Biological Process Annotations 2025 dataset. |
embryonic camera-type eye development Gene SetFrom GO Biological Process Annotations 2025 genes participating in the embryonic camera-type eye development biological process from the curated GO Biological Process Annotations 2025 dataset. |
optic cup morphogenesis involved in camera-type eye development Gene SetFrom GO Biological Process Annotations 2025 genes participating in the optic cup morphogenesis involved in camera-type eye development biological process from the curated GO Biological Process Annotations 2025 dataset. |
lens placode formation involved in camera-type eye formation Gene SetFrom GO Biological Process Annotations 2025 genes participating in the lens placode formation involved in camera-type eye formation biological process from the curated GO Biological Process Annotations 2025 dataset. |
avascular cornea development in camera-type eye Gene SetFrom GO Biological Process Annotations 2025 genes participating in the avascular cornea development in camera-type eye biological process from the curated GO Biological Process Annotations 2025 dataset. |
brain infarction; brain ischemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brain infarction; brain ischemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arterial occlusive diseases; brain infarction; brain ischemia; coronary artery disease; stroke; thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arterial occlusive diseases; brain infarction; brain ischemia; coronary artery disease; stroke; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brain edema; brain injuries; cerebral hemorrhage, traumatic; skull fractures; traumatic cerebral hemorrhage Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brain edema; brain injuries; cerebral hemorrhage, traumatic; skull fractures; traumatic cerebral hemorrhage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brain damage, chronic; brain injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brain damage, chronic; brain injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brain edema; brain injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brain edema; brain injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brain infarction; brain ischemia; cerebrovascular disorders; hypertension; leukoaraiosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brain infarction; brain ischemia; cerebrovascular disorders; hypertension; leukoaraiosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brain concussion; brain injuries; unconsciousness Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brain concussion; brain injuries; unconsciousness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brain edema; brain hemorrhage, traumatic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brain edema; brain hemorrhage, traumatic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
asphyxia neonatorum; brain ischemia; hypoxia-ischemia, brain Gene SetFrom GAD Gene-Disease Associations genes associated with the disease asphyxia neonatorum; brain ischemia; hypoxia-ischemia, brain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apoplexy; brain infarction; brain ischemia; intracranial arteriosclerosis; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apoplexy; brain infarction; brain ischemia; intracranial arteriosclerosis; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brain damage, chronic; hypoxia-ischemia, brain; infant, newborn, diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brain damage, chronic; hypoxia-ischemia, brain; infant, newborn, diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brain hypoxia; burns; hypoxia, brain; spinal cord injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brain hypoxia; burns; hypoxia, brain; spinal cord injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Brain volume in infants (intracranial brain volume) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Brain volume in infants (intracranial brain volume) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
spinal and bulbar muscular atrophy of kennedy Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinal and bulbar muscular atrophy of kennedy phenotype from the curated OMIM Gene-Disease Associations dataset. |
Spinal muscular atrophy, type II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinal muscular atrophy, type II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinal muscular atrophy, Jerash type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinal muscular atrophy, Jerash type from the curated CTD Gene-Disease Associations dataset. |
disorder of muscle, unspec; fam hyperbetalipoproteinaemia; hyperlipoproteinemia type ii; muscular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease disorder of muscle, unspec; fam hyperbetalipoproteinaemia; hyperlipoproteinemia type ii; muscular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
spinal muscular atrophy, jokela type Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinal muscular atrophy, jokela type phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinal muscular atrophy, late-onset, finkel type Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinal muscular atrophy, late-onset, finkel type phenotype from the curated OMIM Gene-Disease Associations dataset. |
{spinal muscular atrophy, type iii, modifier of} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {spinal muscular atrophy, type iii, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset. |
Spinal muscular atrophy, Jokela type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinal muscular atrophy, Jokela type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinal muscular atrophy type 0 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinal muscular atrophy type 0 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Other Specified Congenital Malformations Of Brain Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Other Specified Congenital Malformations Of Brain in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Part Of Brain Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Part Of Brain in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Hypoplasia Of Part Of Brain Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Hypoplasia Of Part Of Brain in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital brain dysgenesis due to glutamine synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital brain dysgenesis due to glutamine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
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. |
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. |
type 1 and type 2 muscle fiber minicore regions Gene SetFrom HPO Gene-Disease Associations genes associated with the type 1 and type 2 muscle fiber minicore regions phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
albuminuria; chronic renal failure; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; glycosuria; kidney failure, chronic; proteinuria Gene SetFrom GAD Gene-Disease Associations genes associated with the disease albuminuria; chronic renal failure; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; glycosuria; kidney failure, chronic; proteinuria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, type 1; diabetes mellitus, type 2; hypoglycemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 1; diabetes mellitus, type 2; hypoglycemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; hypertension Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atherosclerosis; coronary artery disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; fam hyperbetalipoproteinaemia; hyperlipoproteinemia type ii; hypertriglyceridemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atherosclerosis; coronary artery disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; fam hyperbetalipoproteinaemia; hyperlipoproteinemia type ii; hypertriglyceridemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; disease susceptibility; polyendocrinopathies, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; disease susceptibility; polyendocrinopathies, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic retinopathy; genetic predisposition to disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic retinopathy; genetic predisposition to disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis, rheumatoid; coronary artery disease; crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; hypertension; rheumatoid arthritis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis, rheumatoid; coronary artery disease; crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; hypertension; rheumatoid arthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
apoplexy; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic angiopathies; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apoplexy; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic angiopathies; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; folic acid deficiency; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; folic acid deficiency; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital; congenital adrenal hyperplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adrenal hyperplasia, congenital; congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip; cleft palate; congenital heart defects; heart defects, congenital; hyperhomocysteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip; cleft palate; congenital heart defects; heart defects, congenital; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital; cardiovascular diseases; congenital adrenal hyperplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adrenal hyperplasia, congenital; cardiovascular diseases; congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; ventricular outflow obstruction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; ventricular outflow obstruction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; nervous system diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; nervous system diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects 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. |
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. |
body weight; congenital heart defects; growth disorders; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; congenital heart defects; growth disorders; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; down syndrome; heart defects, congenital; heart septal defects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; down syndrome; heart defects, congenital; heart septal defects 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. |
abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital; congenital adrenal hyperplasia; virilism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adrenal hyperplasia, congenital; congenital adrenal hyperplasia; virilism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations 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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
microcornea, rod-cone dystrophy, cataract, and posterior staphyloma Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcornea, rod-cone dystrophy, cataract, and posterior staphyloma phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia, ectrodactyly, and macular dystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia, ectrodactyly, and macular dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, truncal obesity, retinal dystrophy, and micropenis Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, truncal obesity, retinal dystrophy, and micropenis phenotype from the curated OMIM Gene-Disease Associations dataset. |
corneal endothelial dystrophy and perceptive deafness Gene SetFrom OMIM Gene-Disease Associations genes associated with the corneal endothelial dystrophy and perceptive deafness 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. |
retinal dystrophy, early-onset, and pituitary dysfunction Gene SetFrom OMIM Gene-Disease Associations genes associated with the retinal dystrophy, early-onset, and pituitary dysfunction phenotype from the curated OMIM Gene-Disease Associations dataset. |
?retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Epithelial and subepithelial dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Epithelial and subepithelial dystrophy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Epithelial and subepithelial dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Epithelial and subepithelial dystrophy 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. |
Early onset and severe retinal dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early onset and severe retinal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cone dystrophy and rod monochromatism Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cone dystrophy and rod monochromatism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hearing loss and Retinal dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hearing loss and Retinal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cone-rod dystrophy and hearing loss Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cone-rod dystrophy and hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Retinal dystrophy and obesity Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Retinal dystrophy and obesity phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Sacral agenesis with vertebral anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sacral agenesis with vertebral anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth hormone deficiency with pituitary anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth hormone deficiency with pituitary anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Saethre-Chotzen syndrome with eyelid anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Saethre-Chotzen syndrome with eyelid anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anophthalmos with limb anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anophthalmos with limb anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency-centromeric instability-facial anomalies syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 from the curated CTD Gene-Disease Associations dataset. |
Chondrodysplasia, acromesomelic, with genital anomalies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Chondrodysplasia, acromesomelic, with genital anomalies from the curated CTD Gene-Disease Associations dataset. |
Saethre-Chotzen Syndrome with Eyelid Anomalies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Saethre-Chotzen Syndrome with Eyelid Anomalies from the curated CTD Gene-Disease Associations dataset. |
Cavitary Optic Disc Anomalies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cavitary Optic Disc Anomalies from the curated CTD Gene-Disease Associations dataset. |
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS from the curated CTD Gene-Disease Associations dataset. |
Heterotopia, Periventricular, associated with Chromosome 5p Anomalies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Heterotopia, Periventricular, associated with Chromosome 5p Anomalies from the curated CTD Gene-Disease Associations dataset. |
Coronary Vessel Anomalies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Coronary Vessel Anomalies from the curated CTD Gene-Disease Associations dataset. |
coronary vessel anomalies; mucocutaneous lymph node syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary vessel anomalies; mucocutaneous lymph node syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anomalies Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term anomalies in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
pigmentation anomalies of sun-exposed skin Gene SetFrom HPO Gene-Disease Associations genes associated with the pigmentation anomalies of sun-exposed skin phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
multiple skeletal anomalies Gene SetFrom HPO Gene-Disease Associations genes associated with the multiple skeletal anomalies phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Coronary Vessel Anomalies Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Coronary Vessel Anomalies phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
chrondrodysplasia, acromesomelic, with genital anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the chrondrodysplasia, acromesomelic, with genital anomalies phenotype from the curated OMIM Gene-Disease Associations dataset. |
rieger or axenfeld anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the rieger or axenfeld anomalies phenotype from the curated OMIM Gene-Disease Associations dataset. |
antley-bixler syndrome without genital anomalies or disordered steroidogenesis Gene SetFrom OMIM Gene-Disease Associations genes associated with the antley-bixler syndrome without genital anomalies or disordered steroidogenesis phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency-centromeric instability-facial anomalies syndrome-2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency-centromeric instability-facial anomalies syndrome-2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
microphthalmia with limb anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the microphthalmia with limb anomalies phenotype from the curated OMIM Gene-Disease Associations dataset. |
synpolydactyly with foot anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the synpolydactyly with foot anomalies phenotype from the curated OMIM Gene-Disease Associations dataset. |
saethre-chotzen syndrome with eyelid anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the saethre-chotzen syndrome with eyelid anomalies phenotype from the curated OMIM Gene-Disease Associations dataset. |
cavitary optic disc anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the cavitary optic disc anomalies phenotype from the curated OMIM Gene-Disease Associations dataset. |
sacral agenesis with vertebral anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the sacral agenesis with vertebral anomalies phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency-centromeric instability-facial anomalies syndrome 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency-centromeric instability-facial anomalies syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
growth hormone deficiency with pituitary anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the growth hormone deficiency with pituitary anomalies phenotype from the curated OMIM Gene-Disease Associations dataset. |
cleidocranial dysplasia, forme fruste, dental anomalies only Gene SetFrom OMIM Gene-Disease Associations genes associated with the cleidocranial dysplasia, forme fruste, dental anomalies only phenotype from the curated OMIM Gene-Disease Associations dataset. |
anterior segment anomalies with or without cataract Gene SetFrom OMIM Gene-Disease Associations genes associated with the anterior segment anomalies with or without cataract phenotype from the curated OMIM Gene-Disease Associations dataset. |
Valve Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Valve Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anterior Segment Anomalies With Or Without Cataract Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Anterior Segment Anomalies With Or Without Cataract in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pituitary Anomalies With Holoprosencephaly-Like Features (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pituitary Anomalies With Holoprosencephaly-Like Features (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Growth Hormone Deficiency With Pituitary Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth Hormone Deficiency With Pituitary Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cavitary Optic Disc Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cavitary Optic Disc Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pituitary Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pituitary Anomalies in GWAS and other genetic association datasets from the DisGeNET 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. |
Vertebral Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Vertebral Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sacral Agenesis With Vertebral Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sacral Agenesis With Vertebral Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Saethre-Chotzen Syndrome With Eyelid Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Saethre-Chotzen Syndrome With Eyelid Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anterior Chamber Anomalies Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Anterior Chamber Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Multiple Skeletal Anomalies Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Multiple Skeletal Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Pigmentation Anomalies Of Sun-Exposed Skin Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Pigmentation Anomalies Of Sun-Exposed Skin in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Microphthalmia with limb anomalies Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Microphthalmia with limb anomalies from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Microphthalmia with limb anomalies Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Microphthalmia with limb anomalies in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
immunodeficiency-centromeric instability-facial anomalies syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease immunodeficiency-centromeric instability-facial anomalies syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
immunodeficiency-centromeric instability-facial anomalies syndrome 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease immunodeficiency-centromeric instability-facial anomalies syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
immunodeficiency-centromeric instability-facial anomalies syndrome 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease immunodeficiency-centromeric instability-facial anomalies syndrome 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cardiac anomalies - developmental delay - facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Immunodeficiency-centromeric instability-facial anomalies syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency-centromeric instability-facial anomalies syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Testicular anomalies Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Testicular anomalies phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Spasticity-ataxia-gait anomalies syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spasticity-ataxia-gait anomalies syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Tall stature-intellectual disability-renal anomalies syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Tall stature-intellectual disability-renal anomalies syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
MACULAR CORNEAL DYSTROPHY, TYPE II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MACULAR CORNEAL DYSTROPHY, TYPE II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macular corneal dystrophy Type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Macular corneal dystrophy Type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lattice corneal dystrophy Type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lattice corneal dystrophy Type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lattice corneal dystrophy type 3A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lattice corneal dystrophy type 3A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corneal endothelial dystrophy type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corneal endothelial dystrophy type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lattice corneal dystrophy Type III Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lattice corneal dystrophy Type III phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Groenouw corneal dystrophy type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Groenouw corneal dystrophy type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macular dystrophy, retinal, 1, North Carolina type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macular dystrophy, retinal, 1, North Carolina type from the curated CTD Gene-Disease Associations dataset. |
Corneal dystrophy Avellino type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Corneal dystrophy Avellino type from the curated CTD Gene-Disease Associations dataset. |
Lattice corneal dystrophy type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lattice corneal dystrophy type 1 from the curated CTD Gene-Disease Associations dataset. |
Bullous Dystrophy, Hereditary Macular Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bullous Dystrophy, Hereditary Macular Type from the curated CTD Gene-Disease Associations dataset. |
Corneal endothelial dystrophy type 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Corneal endothelial dystrophy type 2 from the curated CTD Gene-Disease Associations dataset. |
Corneal dystrophy, Thiel-Behnke type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Corneal dystrophy, Thiel-Behnke type from the curated CTD Gene-Disease Associations dataset. |
Groenouw type I corneal dystrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Groenouw type I corneal dystrophy from the curated CTD Gene-Disease Associations dataset. |
Corneal Dystrophy, Lattice Type IIIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Corneal Dystrophy, Lattice Type IIIA from the curated CTD Gene-Disease Associations dataset. |
Corneal dystrophy of Bowman layer, type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Corneal dystrophy of Bowman layer, type 1 from the curated CTD Gene-Disease Associations dataset. |
Macular dystrophy, corneal type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macular dystrophy, corneal type 1 from the curated CTD Gene-Disease Associations dataset. |
myotonic dystrophy type 1 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease myotonic dystrophy type 1 from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
myotonic dystrophy type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease myotonic dystrophy type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
myotonic dystrophy type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease myotonic dystrophy type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
myotonic dystrophy type 1 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease myotonic dystrophy type 1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lattice corneal dystrophy type 1 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lattice corneal dystrophy type 1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
corneal dystrophy, schnyder type Gene SetFrom OMIM Gene-Disease Associations genes associated with the corneal dystrophy, schnyder type phenotype from the curated OMIM Gene-Disease Associations dataset. |
corneal dystrophy, lattice type iiia Gene SetFrom OMIM Gene-Disease Associations genes associated with the corneal dystrophy, lattice type iiia phenotype from the curated OMIM Gene-Disease Associations dataset. |
macular dystrophy, north carolina type Gene SetFrom OMIM Gene-Disease Associations genes associated with the macular dystrophy, north carolina type phenotype from the curated OMIM Gene-Disease Associations dataset. |
corneal dystrophy, reis-bucklers type Gene SetFrom OMIM Gene-Disease Associations genes associated with the corneal dystrophy, reis-bucklers type phenotype from the curated OMIM Gene-Disease Associations dataset. |
corneal dystrophy, thiel-behnke type Gene SetFrom OMIM Gene-Disease Associations genes associated with the corneal dystrophy, thiel-behnke type phenotype from the curated OMIM Gene-Disease Associations dataset. |
corneal dystrophy, lattice type i Gene SetFrom OMIM Gene-Disease Associations genes associated with the corneal dystrophy, lattice type i phenotype from the curated OMIM Gene-Disease Associations dataset. |
corneal dystrophy, groenouw type i Gene SetFrom OMIM Gene-Disease Associations genes associated with the corneal dystrophy, groenouw type i phenotype from the curated OMIM Gene-Disease Associations dataset. |
corneal dystrophy, avellino type Gene SetFrom OMIM Gene-Disease Associations genes associated with the corneal dystrophy, avellino type phenotype from the curated OMIM Gene-Disease Associations dataset. |
Macular Corneal Dystrophy Type Ii (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Macular Corneal Dystrophy Type Ii (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Groenouw Corneal Dystrophy Type I (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Groenouw Corneal Dystrophy Type I (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myotonic dystrophy type 1 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Myotonic dystrophy type 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Myotonic dystrophy type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myotonic dystrophy type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myotonic dystrophy type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myotonic dystrophy type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 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. |
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. |
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. |
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. |
apoplexy; brain ischemia; intracranial embolism and thrombosis; sinus thrombosis, intracranial; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease apoplexy; brain ischemia; intracranial embolism and thrombosis; sinus thrombosis, intracranial; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hemorrhagic destruction of the brain, subependymal calcification, and cataracts Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemorrhagic destruction of the brain, subependymal calcification, and cataracts phenotype from the curated OMIM 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. |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Brain Embolism And Thrombosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Brain Embolism And Thrombosis 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. |
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. |
Early onset progressive encephalopathy with brain atrophy and thin corpus callosum Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Early onset progressive encephalopathy with brain atrophy and thin corpus callosum in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
CSF1R-related brain malformation and osteopetrosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease CSF1R-related brain malformation and osteopetrosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 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. |
Inclusion body myopathy and brain white matter abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Inclusion body myopathy and brain white matter abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
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. |
Natriuretic peptide, brain type Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Natriuretic peptide, brain type protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
[creatine kinase, brain type, ectopic expression of] Gene SetFrom OMIM Gene-Disease Associations genes associated with the [creatine kinase, brain type, ectopic expression of] phenotype from the curated OMIM Gene-Disease Associations dataset. |
Brain Calcification Rajab Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Brain Calcification Rajab Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease 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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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, 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. |
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. |
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. |
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. |
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. |
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. |
isolated congenital pituitary hypoplasia and septo-optic dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease isolated congenital pituitary hypoplasia and septo-optic dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
wilms' tumor and congenital male genitourinary malformation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease wilms' tumor and congenital male genitourinary malformation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital and subclinical hypothyroidism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital and subclinical hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
leber congenital amaurosis and a normal ocular phenotype Gene SetFrom GAD Gene-Disease Associations genes associated with the disease leber congenital amaurosis and a normal ocular phenotype in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital goiter and defective tg synthesis. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital goiter and defective tg synthesis. in GWAS and other genetic association datasets from the GAD Gene-Disease 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. |
myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset. |
erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige Gene SetFrom OMIM Gene-Disease Associations genes associated with the erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, congenital with inner ear agenesis, microtia, and microdontia Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, congenital with inner ear agenesis, microtia, and microdontia 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. |
congenital cataracts, hearing loss, and neurodegeneration Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital cataracts, hearing loss, and neurodegeneration phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital cataracts, facial dysmorphism, and neuropathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital cataracts, facial dysmorphism, and neuropathy 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. |
clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, congenital heart defects, and posterior embryotoxon Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, congenital heart defects, and posterior embryotoxon phenotype from the curated OMIM Gene-Disease Associations dataset. |
pancreatic agenesis and congenital heart defects Gene SetFrom OMIM Gene-Disease Associations genes associated with the pancreatic agenesis and congenital heart defects phenotype from the curated OMIM Gene-Disease Associations dataset. |
multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene SetFrom OMIM Gene-Disease Associations genes associated with the multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects 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. |
Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) Gene Setproteins participating in the Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) pathway from the Reactome Pathways dataset. |
Congenital Defect Of Skull And Scalp Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Defect Of Skull And Scalp 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. |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Cataracts, Facial Dysmorphism, And Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hydronephrosis, Congenital, With Cleft Palate, Characteristic Facies, Hypotonia, And Mental Retardation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hydronephrosis, Congenital, With Cleft Palate, Characteristic Facies, Hypotonia, And Mental Retardation 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. |
Congenital Malformation Of Cardiac Chambers And Connections, Unspecified Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Malformation Of Cardiac Chambers And Connections, Unspecified in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Cataracts, Hearing Loss, And Neurodegeneration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Cataracts, Hearing Loss, And Neurodegeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence, Atresia And Stricture Of Auditory Canal (External) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence, Atresia And Stricture Of Auditory Canal (External) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Glycosylation and related congenital defects Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Glycosylation and related congenital defects pathway from the WikiPathways Pathways 2024 dataset. |
Congenital heart defects, hamartomas of tongue, and polysyndactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital heart defects, hamartomas of tongue, and polysyndactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Palmoplantar keratoderma and congenital alopecia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Palmoplantar keratoderma and congenital alopecia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Palmoplantar keratoderma and congenital alopecia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Palmoplantar keratoderma and congenital alopecia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital anomaly of kidney and urinary tract Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital anomaly of kidney and urinary tract phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hypomyelination and Congenital Cataract Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypomyelination and Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital contractures of the limbs and face Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital contractures of the limbs and face 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. |
Congenital heart defects and ectodermal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital heart defects and ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Syndromic congenital hemolytic and dyserythropoietic anemia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic congenital hemolytic and dyserythropoietic anemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital generalized lipodystrophy type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital generalized lipodystrophy type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lipodystrophy, congenital generalized, type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lipodystrophy, congenital generalized, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital dyserythropoietic anemia, type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital dyserythropoietic anemia, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital secretory diarrhea, chloride type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital secretory diarrhea, chloride type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1s Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1s phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1L Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1L phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2J Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2J phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2L Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2L phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2k Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2k phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1Q Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1Q phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1P Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1P phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1H Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1H phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1N Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1N phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1v Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1v phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type Ix Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type Ix phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital order of glycosylation type 1r Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital order of glycosylation type 1r phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital dyserythropoietic anemia, type II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital dyserythropoietic anemia, type II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 2B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1K Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1K phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1J Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1J phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1O Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1O phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1E Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1E phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1G Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1G phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1y Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1y phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1u Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1u phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1t Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1t phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital hyperammonemia, type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital hyperammonemia, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 1C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 1A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 1A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 1F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 1E Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 1E phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital myopathy with fiber type disproportion Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital myopathy with fiber type disproportion phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract congenital Volkmann type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract congenital Volkmann type from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type IIF Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type IIF from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1A from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation, type 2C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation, type 2C from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 2D Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 2D from the curated CTD Gene-Disease Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq from the curated CTD Gene-Disease Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1G Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1G from the curated CTD Gene-Disease Associations dataset. |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder of Glycosylation, Type Io Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder of Glycosylation, Type Io from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type Im Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type Im from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type In Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type In from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1H Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1H from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1J Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1J from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1B from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 2A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 2A from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 2E Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 2E from the curated CTD Gene-Disease Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1F Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1F from the curated CTD Gene-Disease Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type II Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type II from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1K Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1K from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1L Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1L from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1C from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1E Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1E from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1D Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1D from the curated CTD Gene-Disease Associations dataset. |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation, type 2G Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation, type 2G from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 from the curated CTD Gene-Disease Associations dataset. |
Adrenal hyperplasia, congenital, type 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Adrenal hyperplasia, congenital, type 5 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type IIH Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type IIH from the curated CTD Gene-Disease Associations dataset. |
Lipodystrophy, Congenital Generalized, Type 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lipodystrophy, Congenital Generalized, Type 3 from the curated CTD Gene-Disease Associations dataset. |
Lipodystrophy, Congenital Generalized, Type 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lipodystrophy, Congenital Generalized, Type 4 from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type IIB Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type IIB from the curated CTD Gene-Disease Associations dataset. |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B from the curated CTD Gene-Disease Associations dataset. |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C from the curated CTD Gene-Disease Associations dataset. |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A from the curated CTD Gene-Disease Associations dataset. |
congenital disorder of glycosylation type ii Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital disorder of glycosylation type ii in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital disorder of glycosylation type i Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital disorder of glycosylation type i in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
retinitis pigmentosa; leber congenital amaurosis; usher syndrome type i Gene SetFrom GAD Gene-Disease Associations genes associated with the disease retinitis pigmentosa; leber congenital amaurosis; usher syndrome type i in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chuvash-type congenital polycythemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chuvash-type congenital polycythemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital fibrosis of extraocular muscles type 2 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital fibrosis of extraocular muscles type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dyserythropoietic anemia, congenital, type iii Gene SetFrom OMIM Gene-Disease Associations genes associated with the dyserythropoietic anemia, congenital, type iii phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ih Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ih phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ii Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ii phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ij Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ij phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ik Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ik phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type il Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type il phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type im Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type im phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ia Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ia phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ib Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ib phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ic Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ic phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type id Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type id phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ie Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ie phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type if Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type if phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ig Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ig phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iq Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iq phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type it Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type it phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iu Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iu phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iv Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iv phenotype from the curated OMIM Gene-Disease Associations dataset. |
dyserythropoietic anemia, congenital, type ia Gene SetFrom OMIM Gene-Disease Associations genes associated with the dyserythropoietic anemia, congenital, type ia phenotype from the curated OMIM Gene-Disease Associations dataset. |
dyserythropoietic anemia, congenital, type ib Gene SetFrom OMIM Gene-Disease Associations genes associated with the dyserythropoietic anemia, congenital, type ib phenotype from the curated OMIM Gene-Disease Associations dataset. |
dyserythropoietic anemia, congenital, type ii Gene SetFrom OMIM Gene-Disease Associations genes associated with the dyserythropoietic anemia, congenital, type ii phenotype from the curated OMIM Gene-Disease Associations dataset. |
?congenital disorder of glycosylation, type iw Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?congenital disorder of glycosylation, type iw phenotype from the curated OMIM Gene-Disease Associations dataset. |
?congenital disorder of glycosylation, type ix Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?congenital disorder of glycosylation, type ix phenotype from the curated OMIM Gene-Disease Associations dataset. |
?congenital disorder of glycosylation, type iy Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?congenital disorder of glycosylation, type iy phenotype from the curated OMIM Gene-Disease Associations dataset. |
?congenital disorder of glycosylation, type ir Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?congenital disorder of glycosylation, type ir phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type in Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type in phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type io Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type io phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ip Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ip phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type is Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type is phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, congenital, with fiber-type disproportion, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, congenital, with fiber-type disproportion, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
?lipodystrophy, congenital generalized, type 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?lipodystrophy, congenital generalized, type 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
lipodystrophy, congenital generalized, type 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the lipodystrophy, congenital generalized, type 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, congenital, with fiber-type disproportion 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, congenital, with fiber-type disproportion 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iil Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iil phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iij Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iij phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iik Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iik phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iih Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iih phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iii Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iii phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iim Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iim phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iib Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iib phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iic Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iic phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iia Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iia phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iif Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iif phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iig Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iig phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iid Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iid phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iie Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iie phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, congenital, with fiber-type disproportion Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, congenital, with fiber-type disproportion phenotype from the curated OMIM Gene-Disease Associations dataset. |
dyserythropoietic anemia, congenital, type iv Gene SetFrom OMIM Gene-Disease Associations genes associated with the dyserythropoietic anemia, congenital, type iv phenotype from the curated OMIM Gene-Disease Associations dataset. |
oculomotor apraxia, congenital, cogan-type Gene SetFrom OMIM Gene-Disease Associations genes associated with the oculomotor apraxia, congenital, cogan-type phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type b, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type b, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
lipodystrophy, congenital generalized, type 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the lipodystrophy, congenital generalized, type 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
lipodystrophy, congenital generalized, type 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the lipodystrophy, congenital generalized, type 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuromuscular disease, congenital, with uniform type 1 fiber Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuromuscular disease, congenital, with uniform type 1 fiber phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Congenital Fiber Type Disproportion Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Fiber Type Disproportion in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anemia, Congenital Dyserythropoietic, Type Ib Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Anemia, Congenital Dyserythropoietic, Type Ib in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Secretory Diarrhea, Sodium Type (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Secretory Diarrhea, Sodium Type (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Recessive Congenital Methemoglobinemia Type I Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Congenital Methemoglobinemia Type I in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Bile Acid Synthesis Defect Type 3 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Bile Acid Synthesis Defect Type 3 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progeroid Syndrome, Congenital, Petty Type Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progeroid Syndrome, Congenital, Petty Type in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Hydrops Fetalis (Type Ii, Congenital) Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hydrops Fetalis (Type Ii, Congenital) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe congenital neutropenia type 4 (G6PC3) Gene Setproteins participating in the Severe congenital neutropenia type 4 (G6PC3) pathway from the Reactome Pathways 2024 dataset. |
Congenital muscular dystrophy-dystroglycanopathy type A Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital muscular dystrophy-dystroglycanopathy type A from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital disorder of glycosylation type IIm Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital disorder of glycosylation type IIm from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital disorder of glycosylation type II Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital disorder of glycosylation type II from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital disorder of glycosylation type I Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital disorder of glycosylation type I from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital disorder of glycosylation type IIi Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital disorder of glycosylation type IIi from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital disorder of glycosylation type IIe Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital disorder of glycosylation type IIe in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital disorder of glycosylation type I Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital disorder of glycosylation type I in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital disorder of glycosylation type IIa Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital disorder of glycosylation type IIa in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital disorder of glycosylation type II Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital disorder of glycosylation type II in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital disorder of glycosylation type IIk Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital disorder of glycosylation type IIk in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital generalized lipodystrophy type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital generalized lipodystrophy type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital muscular dystrophy-dystroglycanopathy type A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital muscular dystrophy-dystroglycanopathy type A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital disorder of glycosylation type IIc Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital disorder of glycosylation type IIc in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital muscular dystrophy-dystroglycanopathy type A5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital muscular dystrophy-dystroglycanopathy type A5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital disorder of glycosylation type IIm Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital disorder of glycosylation type IIm in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital disorder of glycosylation type IIq Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital disorder of glycosylation type IIq in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital disorder of glycosylation type IIf Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital disorder of glycosylation type IIf in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital disorder of glycosylation type IIh Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital disorder of glycosylation type IIh in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital disorder of glycosylation type IIj Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital disorder of glycosylation type IIj in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital disorder of glycosylation type IIp Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital disorder of glycosylation type IIp in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital disorder of glycosylation type IIi Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital disorder of glycosylation type IIi in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital disorder of glycosylation type IIo Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital disorder of glycosylation type IIo in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital disorder of glycosylation type IIn Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital disorder of glycosylation type IIn in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital dyserythropoietic anemia type II Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital dyserythropoietic anemia type II in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital dyserythropoietic anemia type Ia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital dyserythropoietic anemia type Ia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital muscular dystrophy-dystroglycanopathy type A1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital muscular dystrophy-dystroglycanopathy type A1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital dyserythropoietic anemia type III Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital dyserythropoietic anemia type III in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital disorder of glycosylation type IIg Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital disorder of glycosylation type IIg in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital disorder of glycosylation type IIl Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital disorder of glycosylation type IIl in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital muscular dystrophy-dystroglycanopathy type A11 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital muscular dystrophy-dystroglycanopathy type A11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital disorder of glycosylation type IIb Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital disorder of glycosylation type IIb in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital generalized lipodystrophy type 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital generalized lipodystrophy type 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital disorder of glycosylation type IId Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital disorder of glycosylation type IId in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital dyserythropoietic anemia type I Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital dyserythropoietic anemia type I in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital muscular dystrophy-dystroglycanopathy type A3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital muscular dystrophy-dystroglycanopathy type A3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital dyserythropoietic anemia type IV Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital dyserythropoietic anemia type IV in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital muscular dystrophy-dystroglycanopathy type A6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital muscular dystrophy-dystroglycanopathy type A6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital generalized lipodystrophy type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital generalized lipodystrophy type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital generalized lipodystrophy type 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital generalized lipodystrophy type 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital muscular dystrophy-dystroglycanopathy type A12 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital muscular dystrophy-dystroglycanopathy type A12 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital muscular dystrophy-dystroglycanopathy type A10 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital muscular dystrophy-dystroglycanopathy type A10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital dyserythropoietic anemia type Ib Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital dyserythropoietic anemia type Ib in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital muscular dystrophy-dystroglycanopathy type A9 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital muscular dystrophy-dystroglycanopathy type A9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Skin/hair/eye pigmentation, variation in, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Skin/hair/eye pigmentation, variation in, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Skin/hair/eye pigmentation, variation in, 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Skin/hair/eye pigmentation, variation in, 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Skin/hair/eye pigmentation, variation in, 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Skin/hair/eye pigmentation, variation in, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Skin/hair/eye pigmentation, variation in, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Skin/hair/eye pigmentation, variation in, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Skin/hair/eye pigmentation, variation in, 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Skin/hair/eye pigmentation, variation in, 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Skin/hair/eye pigmentation, variation in, 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Skin/hair/eye pigmentation, variation in, 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Skin/hair/eye pigmentation, variation in, 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Skin/hair/eye pigmentation, variation in, 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fish-eye disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fish-eye disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Eye Diseases, Hereditary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Eye Diseases, Hereditary from the curated CTD Gene-Disease Associations dataset. |
Eye Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Eye Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Eye Diseases Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Eye Diseases from the curated CTD Gene-Disease Associations dataset. |