| Name |
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PKDTS Genepolycystic kidney disease, infantile severe, with tuberous sclerosis |
USH1C GeneUsher syndrome 1C (autosomal recessive, severe) This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] |
USH1E GeneUsher syndrome 1E (autosomal recessive, severe) |
MRST GeneMental retardation, severe, with spasticity and tapetoretinal |
COPD GenePulmonary disease, chronic obstructive, severe early-onset |
Severe Bronchopulmonary Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Bronchopulmonary Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Bronchopulmonary Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bronchopulmonary Dysplasia from the curated CTD Gene-Disease Associations dataset. |
bronchopulmonary dysplasia; infant, newborn, diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia; infant, newborn, diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary dysplasia; respiratory distress syndrome, neonatal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia; respiratory distress syndrome, neonatal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary dysplasia; respiratory distress syndrome, newborn Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary dysplasia; chorioamnionitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia; chorioamnionitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary dysplasia. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary dysplasia; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Bronchopulmonary dysplasia Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Bronchopulmonary dysplasia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Bronchopulmonary Dysplasia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Bronchopulmonary Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Bronchopulmonary Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bronchopulmonary Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mild Bronchopulmonary Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mild Bronchopulmonary Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bronchopulmonary dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Bronchopulmonary dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Bronchopulmonary dysplasia in preterm infants Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Bronchopulmonary dysplasia in preterm infants phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Bronchopulmonary dysplasia Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Bronchopulmonary dysplasia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Erosive tooth wear (severe vs non-severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Erosive tooth wear (severe vs non-severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
allergic bronchopulmonary aspergillosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease allergic bronchopulmonary aspergillosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
allergic bronchopulmonary aspergillosis abpa Gene SetFrom GAD Gene-Disease Associations genes associated with the disease allergic bronchopulmonary aspergillosis abpa in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aspergillosis; aspergillosis, allergic bronchopulmonary; lung diseases, fungal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aspergillosis; aspergillosis, allergic bronchopulmonary; lung diseases, fungal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary aspergillosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary aspergillosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cystic fibrosis; chronic bronchopulmonary diseases; chronic obstructive pulmonary disease/copd; 21-hydroxylase deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cystic fibrosis; chronic bronchopulmonary diseases; chronic obstructive pulmonary disease/copd; 21-hydroxylase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cystic fibrosis; chronic bronchopulmonary diseases; chronic obstructive pulmonary disease/copd Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cystic fibrosis; chronic bronchopulmonary diseases; chronic obstructive pulmonary disease/copd in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term bronchopulmonary in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
bronchopulmonary sequestration Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the bronchopulmonary sequestration phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
recurrent bronchopulmonary infections Gene SetFrom HPO Gene-Disease Associations genes associated with the recurrent bronchopulmonary infections phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Aspergillosis, Allergic Bronchopulmonary Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Aspergillosis, Allergic Bronchopulmonary phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Bronchopulmonary Sequestration Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Bronchopulmonary Sequestration phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Bronchopulmonary Infection Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bronchopulmonary Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bronchopulmonary Aspergillosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bronchopulmonary Aspergillosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bronchopulmonary Sequestration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bronchopulmonary Sequestration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Allergic Bronchopulmonary Mycosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Allergic Bronchopulmonary Mycosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bronchopulmonary Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bronchopulmonary Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Recurrent Bronchopulmonary Infections Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Recurrent Bronchopulmonary Infections in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Allergic bronchopulmonary aspergillosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Allergic bronchopulmonary aspergillosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 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. |
carcinoma, squamous cell; cervical dysplasia; cervical intraepithelial neoplasia; cervical neoplasm; papillomavirus infections; squamous cell carcinoma; tumor virus infections; uterine cervical dysplasia; uterine cervical neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, squamous cell; cervical dysplasia; cervical intraepithelial neoplasia; cervical neoplasm; papillomavirus infections; squamous cell carcinoma; tumor virus infections; uterine cervical dysplasia; uterine cervical neoplasms in GWAS and other genetic association datasets from the GAD 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. |
X-linked severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, reducing body, X-linked, early-onset, severe Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, reducing body, X-linked, early-onset, severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency due to ADA deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 18, severe combined immunodeficiency variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 18, severe combined immunodeficiency variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperparathyroidism, neonatal severe Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperparathyroidism, neonatal severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 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. |
Severe congenital neutropenia 3, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 3, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ulna and fibula absence of with severe limb deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe X-linked myotubular myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 6, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency, atypical Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, atypical phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency with sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 2, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 4, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe myoclonic epilepsy in infancy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe myoclonic epilepsy in infancy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy, early-onset severe Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, early-onset severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Obesity, severe, due to leptin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sialic acid storage disease, severe infantile type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sialic acid storage disease, severe infantile type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation from the curated CTD Gene-Disease Associations dataset. |
Hyperparathyroidism, Neonatal Severe Primary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperparathyroidism, Neonatal Severe Primary from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency from the curated CTD Gene-Disease Associations dataset. |
Severe Dengue Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Dengue from the curated CTD Gene-Disease Associations dataset. |
Abnormalities, Severe Teratoid Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Abnormalities, Severe Teratoid from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Dominant 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 2 from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive from the curated CTD Gene-Disease Associations dataset. |
Severe combined immunodeficiency due to adenosine deaminase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset. |
Severe Acute Respiratory Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Acute Respiratory Syndrome from the curated CTD Gene-Disease Associations dataset. |
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Dominant 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset. |
HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION from the curated CTD Gene-Disease Associations dataset. |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive from the curated CTD Gene-Disease Associations dataset. |
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration from the curated CTD Gene-Disease Associations dataset. |
Polycystic kidneys, severe infantile with tuberous sclerosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polycystic kidneys, severe infantile with tuberous sclerosis from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Reducing Body, X-Linked, Early-Onset, Severe from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Recessive 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Recessive 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset. |
severe combined immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease severe combined immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
severe congenital neutropenia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease severe congenital neutropenia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
severe acute respiratory syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe acute respiratory syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe nonproliferative diabetic retinopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe nonproliferative diabetic retinopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe combined immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe pre-eclampsia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe pre-eclampsia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe type iii hyperlipoproteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe type iii hyperlipoproteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyper-ige syndrome and severe eczema. atopy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyper-ige syndrome and severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe trauma. mortality Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe trauma. mortality in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe childhood thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe childhood thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sars (severe acute respiratory syndrome) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sars (severe acute respiratory syndrome) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyper-ige syndrome. severe eczema. atopy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyper-ige syndrome. severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe desmoid phenotype Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe desmoid phenotype in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mild and severe substance abuse Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mild and severe substance abuse in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe malaria Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe malaria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
communicable diseases; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease communicable diseases; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anoxemia; anoxia; pneumonia, viral; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anoxemia; anoxia; pneumonia, viral; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe acute radiotherapy side effects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe acute radiotherapy side effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe hyperkinetic disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe hyperkinetic disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe sepsis in blunt trauma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe sepsis in blunt trauma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lymphopenia; scid; severe combined immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lymphopenia; scid; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe ulcerative colitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe ulcerative colitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe sepsis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe sepsis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bone necrosis; osteonecrosis; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bone necrosis; osteonecrosis; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe chronic neutropenia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe chronic neutropenia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
x-linked severe combined immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease x-linked severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe rsv bronchiolitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe rsv bronchiolitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
outcome after severe injury Gene SetFrom GAD Gene-Disease Associations genes associated with the disease outcome after severe injury in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
femur head necrosis; pulmonary fibrosis; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease femur head necrosis; pulmonary fibrosis; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe sepsis after trauma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe sepsis after trauma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
immunologic deficiency syndromes; severe combined immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease immunologic deficiency syndromes; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe photoaging of facial skin Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe photoaging of facial skin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term severe in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Severe acute respiratory syndrome (SARS)_Peripheral blood mononuclear cell_GSE1739 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Severe acute respiratory syndrome (SARS)_Peripheral blood mononuclear cell_GSE1739 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
Treatment response for severe sepsis Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Treatment response for severe sepsis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Acne (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Acne (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Chronic obstructive pulmonary disease (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Chronic obstructive pulmonary disease (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Myopia (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Myopia (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Chronic obstructive pulmonary disease (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Chronic obstructive pulmonary disease (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Asthma (childhood, severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Asthma (childhood, severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
severe osteoporosis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe osteoporosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe platyspondyly Gene SetFrom HPO Gene-Disease Associations genes associated with the severe platyspondyly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe photosensitivity Gene SetFrom HPO Gene-Disease Associations genes associated with the severe photosensitivity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe hydrops fetalis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe hydrops fetalis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe carpal ossification delay Gene SetFrom HPO Gene-Disease Associations genes associated with the severe carpal ossification delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe lactic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe lactic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe t-cell immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the severe t-cell immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe combined immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the severe combined immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe recurrent varicella Gene SetFrom HPO Gene-Disease Associations genes associated with the severe recurrent varicella phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe visual impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the severe visual impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
intellectual disability, severe Gene SetFrom HPO Gene-Disease Associations genes associated with the intellectual disability, severe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe hydrocephalus Gene SetFrom HPO Gene-Disease Associations genes associated with the severe hydrocephalus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe failure to thrive Gene SetFrom HPO Gene-Disease Associations genes associated with the severe failure to thrive phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe b lymphocytopenia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe b lymphocytopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe intrauterine growth retardation Gene SetFrom HPO Gene-Disease Associations genes associated with the severe intrauterine growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe short-limb dwarfism Gene SetFrom HPO Gene-Disease Associations genes associated with the severe short-limb dwarfism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe hearing impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the severe hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe muscular hypotonia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe muscular hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe demyelination of the white matter Gene SetFrom HPO Gene-Disease Associations genes associated with the severe demyelination of the white matter phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe sensorineural hearing impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the severe sensorineural hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe t lymphocytopenia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe t lymphocytopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe myopia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe myopia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe limb shortening Gene SetFrom HPO Gene-Disease Associations genes associated with the severe limb shortening phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the severe short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe periodontitis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe periodontitis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe postnatal growth retardation Gene SetFrom HPO Gene-Disease Associations genes associated with the severe postnatal growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe global developmental delay Gene SetFrom HPO Gene-Disease Associations genes associated with the severe global developmental delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Severe Acute Respiratory Syndrome Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Severe Acute Respiratory Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Severe Combined Immunodeficiency Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Severe Combined Immunodeficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
mental retardation, severe, with spasticity and tapetoretinal degeneration Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, severe, with spasticity and tapetoretinal degeneration phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency due to il2 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
retinal dystrophy, early-onset severe Gene SetFrom OMIM Gene-Disease Associations genes associated with the retinal dystrophy, early-onset severe phenotype from the curated OMIM Gene-Disease Associations dataset. |
ulna and fibula, absence of, with severe limb deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ulna and fibula, absence of, with severe limb deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
insulin resistance, severe, digenic Gene SetFrom OMIM Gene-Disease Associations genes associated with the insulin resistance, severe, digenic phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 1, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 1, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, severe, susceptibility to, bmiq9} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, severe, susceptibility to, bmiq9} phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 3, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 3, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency due to ada deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, 6, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, 6, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
encephalopathy, neonatal severe Gene SetFrom OMIM Gene-Disease Associations genes associated with the encephalopathy, neonatal severe phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, severe, and type ii diabetes} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, severe, and type ii diabetes} phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, 5, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, 5, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
obesity, severe Gene SetFrom OMIM Gene-Disease Associations genes associated with the obesity, severe phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated OMIM Gene-Disease Associations dataset. |
{influenza, severe, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {influenza, severe, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, b cell-negative Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, b cell-negative phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, athabascan type Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, athabascan type phenotype from the curated OMIM Gene-Disease Associations dataset. |
polycystic kidney disease, infantile severe, with tuberous sclerosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the polycystic kidney disease, infantile severe, with tuberous sclerosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 4, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
pulmonary disease, chronic obstructive, severe early-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the pulmonary disease, chronic obstructive, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene SetFrom OMIM Gene-Disease Associations genes associated with the alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type phenotype from the curated OMIM Gene-Disease Associations dataset. |
{malaria, severe, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {malaria, severe, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{malaria, severe, resistance to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {malaria, severe, resistance to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, reducing body, x-linked, severe early-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, reducing body, x-linked, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 2, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 2, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
Severe Acute Respiratory Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Acute Respiratory Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Visual Impairment Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Visual Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mental Disorders, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mental Disorders, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Combined Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hypoglycaemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hypoglycaemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Intellectual Disability Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Intellectual Disability in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Epstein Barr Virus Infection Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Epstein Barr Virus Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hereditary Factor Viii Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hereditary Factor Viii Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Sepsis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Sepsis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Sensorineural Hearing Impairment Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Sensorineural Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Myopia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Myopia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Severe Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Severe Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dementia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dementia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hypoxic Ischemic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hypoxic Ischemic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dengue Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dengue in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Depression Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Depression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Chronic Obstructive Pulmonary Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Chronic Obstructive Pulmonary Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Periodontitis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Periodontitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autism, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autism, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Acute Malnutrition Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Acute Malnutrition in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Aplastic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Aplastic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Intellectual Disability And Progressive Spastic Paraplegia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Intellectual Disability And Progressive Spastic Paraplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Congenital Microcephaly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Congenital Microcephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Expressive Language Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Expressive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mucopolysaccharidosis, Type Vi, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mucopolysaccharidosis, Type Vi, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Malnutrition Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Malnutrition in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Nonproliferative Diabetic Retinopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Nonproliferative Diabetic Retinopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Alpha Thalassemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Alpha Thalassemia in GWAS and other genetic association datasets from the DisGeNET 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. |
Severe Fever With Thrombocytopenia Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Fever With Thrombocytopenia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Alcohol Dependence Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Alcohol Dependence in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Persistent Asthma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Persistent Asthma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Acute Respiratory Infection Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Acute Respiratory Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Asthma With Fungal Sensitisation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Asthma With Fungal Sensitisation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Generalized Recessive Dystrophic Epidermolysis Bullosa Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Generalized Recessive Dystrophic Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Severe Refractory Exacerbation Of Asthma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Severe Refractory Exacerbation Of Asthma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Granulocytopenia Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Granulocytopenia Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Beta Thalassemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Beta Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Pediatric Obstructive Sleep Apnea Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Pediatric Obstructive Sleep Apnea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Varicella, Severe Recurrent Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Varicella, Severe Recurrent in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Major Depression With Psychotic Features Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Major Depression With Psychotic Features in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Athabaskan Severe Combined Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Athabaskan Severe Combined Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Recurrent Major Depression Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Recurrent Major Depression 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. |
Severe Dermatitis, Multiple Allergies, Metabolic Wasting Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dermatitis, Multiple Allergies, Metabolic Wasting Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Receptive Language Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Receptive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Reaction To Severe Stress, And Adjustment Disorders Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Reaction To Severe Stress, And Adjustment Disorders in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Copd, Severe Early-Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Copd, Severe Early-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Short-Limb Dwarfism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Short-Limb Dwarfism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe T-Cell Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe T-Cell Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Galactose Epimerase Deficiency, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Galactose Epimerase Deficiency, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Greig Cephalopolysyndactyly Syndrome, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Greig Cephalopolysyndactyly Syndrome, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dehydration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dehydration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Left Ventricular Systolic Dysfunction Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Left Ventricular Systolic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Costello Syndrome, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Costello Syndrome, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hunter'S Syndrome, Severe Form Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hunter'S Syndrome, Severe Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Growth Restriction, Severe, With Distinctive Facies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth Restriction, Severe, With Distinctive Facies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Opioid Use Disorder, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Opioid Use Disorder, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Early Childhood Onset Retinal Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Early Childhood Onset Retinal Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Laryngospasm, Severe Neonatal Episodic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Laryngospasm, Severe Neonatal Episodic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Global Developmental Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Global Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Muscular Hypotonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Muscular Hypotonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Diarrhea Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Diarrhea in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe B Lymphocytopenia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe B Lymphocytopenia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Psychomotor Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Psychomotor Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Dry Skin Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Dry Skin in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Congenital Neutropenia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Congenital Neutropenia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Cutaneous Adverse Reactions (Smq) Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Cutaneous Adverse Reactions (Smq) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Early Severe Fetal Akinesia Sequence Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Early Severe Fetal Akinesia Sequence in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Postnatal Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Postnatal Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Failure To Thrive Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Failure To Thrive in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Photosensitivity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Photosensitivity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Hearing Loss Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Hearing Loss in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Intrauterine Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Intrauterine Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Generalized Osteoporosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Generalized Osteoporosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Limb Shortening Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Limb Shortening in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Platyspondyly Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Platyspondyly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Headache Severe Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Headache Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Lactic Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Speech Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Speech Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Achondrodysplasia With Developmental Delay And Acanthosis Nigricans Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Achondrodysplasia With Developmental Delay And Acanthosis Nigricans in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Back Pain Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Back Pain in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Hydrocephalus Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Hydrocephalus in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Influenza, Severe, Susceptibility To Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Influenza, Severe, Susceptibility To in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Demyelination Of The White Matter Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Demyelination Of The White Matter in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Hydrops Fetalis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Hydrops Fetalis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Gastroesophageal Reflux Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Gastroesophageal Reflux in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Feeding Problems Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Feeding Problems in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Carpal Ossification Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Carpal Ossification Delay 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. |
Severe combined immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe combined immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe congenital encephalopathy due to MECP2 mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Severe congenital neutropenia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe congenital neutropenia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease X-linked severe combined immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Severe combined immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe COVID-19 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe COVID-19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe acute respiratory syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe acute respiratory syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe pre-eclampsia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe pre-eclampsia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Intellectual disability-severe speech delay-mild dysmorphism syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-severe COVID-19 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-severe COVID-19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
adult-onset severe asthma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease adult-onset severe asthma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe nonproliferative diabetic retinopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe nonproliferative diabetic retinopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Persistent severe asthma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Persistent severe asthma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital encephalopathy due to MECP2 mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Susceptibility to severe coronavirus disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Susceptibility to severe coronavirus disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe hydrocephalus Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe hydrocephalus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 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. |
Severe neurodegenerative syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe neurodegenerative syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to DCLRE1C deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to DCLRE1C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Athabaskan severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Athabaskan severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe early-childhood-onset retinal dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe early-childhood-onset retinal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe global developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe global developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe X-linked myotubular myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal severe primary hyperparathyroidism Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal severe primary hyperparathyroidism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
T-B+ severe combined immunodeficiency due to JAK3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the T-B+ severe combined immunodeficiency due to JAK3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked severe congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe neonatal-onset encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe neonatal-onset encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe myoclonic epilepsy in infancy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe myoclonic epilepsy in infancy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
ZAP70-Related Severe Combined Immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the ZAP70-Related Severe Combined Immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe achondroplasia-developmental delay-acanthosis nigricans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe sensorineural hearing impairment Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe sensorineural hearing impairment phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability-severe speech delay-mild dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-progressive spastic diplegia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-progressive spastic diplegia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CARD11 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CARD11 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe X-linked mitochondrial encephalomyopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe X-linked mitochondrial encephalomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CTPS1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CTPS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe underweight in infancy childhood and adolescence Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe underweight in infancy childhood and adolescence phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to CSF3R deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe neurodevelopmental delay Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe neurodevelopmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Spastic paraplegia-severe developmental delay-epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spastic paraplegia-severe developmental delay-epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CARMIL2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CARMIL2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Susceptibility to severe COVID- Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Susceptibility to severe COVID- phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intermediate severe Salla disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intermediate severe Salla disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to DNA-PKcs deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to DNA-PKcs deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CORO1A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CORO1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to IKK2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to IKK2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe dermatitis-multiple allergies-metabolic wasting syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe dermatitis-multiple allergies-metabolic wasting syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to LCK deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to LCK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe muscular hypotonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe muscular hypotonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to LAT deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to LAT deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
CV-A6-associated hand, foot, and mouth disease (severe vs mild) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the CV-A6-associated hand, foot, and mouth disease (severe vs mild) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe COVID-19 infection with respiratory failure (analysis I) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe COVID-19 infection with respiratory failure (analysis I) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe COVID-19 infection with respiratory failure (analysis II) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe COVID-19 infection with respiratory failure (analysis II) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Statin-induced myopathy (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Statin-induced myopathy (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pelvic organ prolapse (moderate/severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pelvic organ prolapse (moderate/severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe influenza A (H1N1) infection Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe influenza A (H1N1) infection phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe malaria Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe malaria phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic kidney disease (severe chronic kidney disease vs normal kidney function) in type 1 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic kidney disease (severe chronic kidney disease vs normal kidney function) in type 1 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe malaria (adjusted for sickle cell variant rs334) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe malaria (adjusted for sickle cell variant rs334) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Moderate or severe prolonged lymphopenia in dimethyl fumarate-treated relapsing-remitting multiple sclerosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Moderate or severe prolonged lymphopenia in dimethyl fumarate-treated relapsing-remitting multiple sclerosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe aplastic anemia Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe aplastic anemia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe aortic features in Marfan syndrome Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe aortic features in Marfan syndrome phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe skin toxicity response to cetuximab in colorectal cancer Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe skin toxicity response to cetuximab in colorectal cancer phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Asthma (moderate or severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Asthma (moderate or severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Acne (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Acne (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic obstructive pulmonary disease (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic obstructive pulmonary disease (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic obstructive pulmonary disease (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic obstructive pulmonary disease (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Osteoarthritis (hand, severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Osteoarthritis (hand, severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Myopia (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Myopia (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe mucosal involvement Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe mucosal involvement phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Asthma with severe exacerbations Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Asthma with severe exacerbations phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe diabetic retinopathy in type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe diabetic retinopathy in type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Hypospadias (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hypospadias (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Glucosuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Glucosuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Hematuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hematuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Proteinuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Proteinuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Ketonuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Ketonuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Childhood asthma with severe exacerbations Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Childhood asthma with severe exacerbations phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Treatment response for severe sepsis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Treatment response for severe sepsis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Adolescent idiopathic scoliosis (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Adolescent idiopathic scoliosis (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Response to mepolizumab in severe asthma Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Response to mepolizumab in severe asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Thiopurine-induced severe leukopenia in inflammatory bowel disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Thiopurine-induced severe leukopenia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Thiopurine-induced acute severe leukopenia in inflammatory bowel disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Thiopurine-induced acute severe leukopenia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Thiopurine-induced severe alopecia in inflammatory bowel disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Thiopurine-induced severe alopecia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Erosive tooth wear (severe vs none or mild) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Erosive tooth wear (severe vs none or mild) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe progression in rheumatoid arthritis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe progression in rheumatoid arthritis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe bacterial meningitis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe bacterial meningitis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe exacerbations in childhood asthma Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe exacerbations in childhood asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Moderate or severe diarrhoea in darapladib-treated cardiovascular disease (time to event) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Moderate or severe diarrhoea in darapladib-treated cardiovascular disease (time to event) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe gingival inflammation Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe gingival inflammation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe gastric atrophy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe gastric atrophy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe insulin-deficient type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe insulin-deficient type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe insulin-resistant type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe insulin-resistant type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe autoimmune type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe autoimmune type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Symptoms in placebo-treated COVID-19 outpatients at risk of severe disease (time to remission) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Symptoms in placebo-treated COVID-19 outpatients at risk of severe disease (time to remission) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe coronary stenosis (young age of onset interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe coronary stenosis (young age of onset interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Frontometaphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frontometaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Czech dysplasia metatarsal type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Czech dysplasia metatarsal type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epiphyseal dysplasia, multiple, 3, with myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epiphyseal dysplasia, multiple, 3, with myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondyloperipheral dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloperipheral dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Wolcott-Rallison dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Wolcott-Rallison dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniodiaphyseal dysplasia, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniodiaphyseal dysplasia, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypohidrotic X-linked ectodermal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypohidrotic X-linked ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Progressive pseudorheumatoid dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Progressive pseudorheumatoid dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osteoglophonic dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteoglophonic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gracile bone dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gracile bone dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Frontonasal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frontonasal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondylometaphyseal dysplasia, Kozlowski type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondylometaphyseal dysplasia, Kozlowski type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Odontoonychodermal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Odontoonychodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondyloepimetaphyseal dysplasia with multiple dislocations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloepimetaphyseal dysplasia with multiple dislocations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal-hepatic-pancreatic dysplasia 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal-hepatic-pancreatic dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acampomelic campomelic dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acampomelic campomelic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectodermal dysplasia/short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia/short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondyloepimetaphyseal dysplasia, Missouri type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloepimetaphyseal dysplasia, Missouri type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypohidrotic ectodermal dysplasia with immune deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypohidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arrhythmogenic right ventricular dysplasia, familial, 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arrhythmogenic right ventricular dysplasia, familial, 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniofrontonasal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofrontonasal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anhidrotic ectodermal dysplasia with immune deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anhidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondyloepiphyseal dysplasia, kimberley type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloepiphyseal dysplasia, kimberley type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short-rib thoracic dysplasia 11 with or without polydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short-rib thoracic dysplasia 11 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cardiac valvular dysplasia, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cardiac valvular dysplasia, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Trichorhinophalangeal dysplasia type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Trichorhinophalangeal dysplasia type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diastrophic dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diastrophic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thanatophoric dysplasia type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thanatophoric dysplasia type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diaphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive hypohidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cleidocranial dysplasia, forme fruste, with brachydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cleidocranial dysplasia, forme fruste, with brachydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniometaphyseal dysplasia, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniometaphyseal dysplasia, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Schneckenbecken dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Schneckenbecken dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acromicric dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acromicric dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Terminal osseous dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Terminal osseous dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Vitreoretinopathy with phalangeal epiphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Vitreoretinopathy with phalangeal epiphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acromesomelic dysplasia Maroteaux type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acromesomelic dysplasia Maroteaux type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rapp-Hodgkin ectodermal dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rapp-Hodgkin ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Schimke immunoosseous dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Schimke immunoosseous dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acrocapitofemoral dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acrocapitofemoral dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hay-Wells syndrome of ectodermal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hay-Wells syndrome of ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oculodentodigital dysplasia, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oculodentodigital dysplasia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondyloepiphyseal dysplasia with congenital joint dislocations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloepiphyseal dysplasia with congenital joint dislocations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short-rib thoracic dysplasia 10 with or without polydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short-rib thoracic dysplasia 10 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Greenberg dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Greenberg dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Boomerang dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Boomerang dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniolenticulosutural dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniolenticulosutural dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oculodentodigital dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oculodentodigital dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Desbuquois dysplasia 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Desbuquois dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortical dysplasia, complex, with other brain malformations 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortical dysplasia, complex, with other brain malformations 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortical dysplasia, complex, with other brain malformations 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortical dysplasia, complex, with other brain malformations 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortical dysplasia, complex, with other brain malformations 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortical dysplasia, complex, with other brain malformations 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortical dysplasia, complex, with other brain malformations 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortical dysplasia, complex, with other brain malformations 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortical dysplasia, complex, with other brain malformations 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortical dysplasia, complex, with other brain malformations 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bent bone dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bent bone dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondylometaphyseal dysplasia with cone-rod dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondylometaphyseal dysplasia with cone-rod dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chondroectodermal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chondroectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ischiopatellar dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ischiopatellar dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Geleophysic dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Geleophysic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corneal intraepithelial dyskeratosis and ectodermal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corneal intraepithelial dyskeratosis and ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Geleophysic dysplasia 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Geleophysic dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondyloepimetaphyseal dysplasia, Aggrecan type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloepimetaphyseal dysplasia, Aggrecan type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alveolar capillary dysplasia with misalignment of pulmonary veins Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alveolar capillary dysplasia with misalignment of pulmonary veins phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brachyrachia (short spine dysplasia) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brachyrachia (short spine dysplasia) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortical dysplasia-focal epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortical dysplasia-focal epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondyloepimetaphyseal dysplasia Strudwick type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloepimetaphyseal dysplasia Strudwick type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short-rib thoracic dysplasia 3 with or without polydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short-rib thoracic dysplasia 3 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Septo-optic dysplasia sequence Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Septo-optic dysplasia sequence phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondyloepiphyseal dysplasia Maroteaux type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloepiphyseal dysplasia Maroteaux type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondylo-megaepiphyseal-metaphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondylo-megaepiphyseal-metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cranioectodermal dysplasia 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cranioectodermal dysplasia 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cranioectodermal dysplasia 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cranioectodermal dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cranioectodermal dysplasia 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cranioectodermal dysplasia 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epiphyseal dysplasia, multiple, with myopia and conductive deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epiphyseal dysplasia, multiple, with myopia and conductive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cranioectodermal dysplasia 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cranioectodermal dysplasia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fibrous dysplasia of jaw Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fibrous dysplasia of jaw phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Smith McCort dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Smith McCort dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondyloepiphyseal dysplasia congenita Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloepiphyseal dysplasia congenita phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple epiphyseal dysplasia 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple epiphyseal dysplasia 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple epiphyseal dysplasia 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple epiphyseal dysplasia 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple epiphyseal dysplasia 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple epiphyseal dysplasia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectodermal dysplasia skin fragility syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia skin fragility syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondyloepimetaphyseal dysplasia, pakistani type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloepimetaphyseal dysplasia, pakistani type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kniest dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kniest dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Otospondylomegaepiphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Otospondylomegaepiphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondylometaepiphyseal dysplasia short limb-hand type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondylometaepiphyseal dysplasia short limb-hand type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectodermal dysplasia-syndactyly syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia-syndactyly syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Metatrophic dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Metatrophic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Frontonasal dysplasia 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frontonasal dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Frontonasal dysplasia 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frontonasal dysplasia 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hidrotic ectodermal dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dyssegmental dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dyssegmental dysplasia from the curated CTD Gene-Disease Associations dataset. |
Frontometaphyseal dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Frontometaphyseal dysplasia from the curated CTD Gene-Disease Associations dataset. |
DEVELOPMENTAL DYSPLASIA OF THE HIP 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease DEVELOPMENTAL DYSPLASIA OF THE HIP 1 from the curated CTD Gene-Disease Associations dataset. |
GNATHODIAPHYSEAL DYSPLASIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease GNATHODIAPHYSEAL DYSPLASIA from the curated CTD Gene-Disease Associations dataset. |
Ectodermal Dysplasia 3, Anhidrotic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal Dysplasia 3, Anhidrotic from the curated CTD Gene-Disease Associations dataset. |
Acrocapitofemoral Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Acrocapitofemoral Dysplasia from the curated CTD Gene-Disease Associations dataset. |
Thanatophoric dysplasia, type 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thanatophoric dysplasia, type 2 from the curated CTD Gene-Disease Associations dataset. |
Cardiac valvular dysplasia, X-linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardiac valvular dysplasia, X-linked from the curated CTD Gene-Disease Associations dataset. |
GREENBERG DYSPLASIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease GREENBERG DYSPLASIA from the curated CTD Gene-Disease Associations dataset. |
Craniolenticulosutural Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Craniolenticulosutural Dysplasia from the curated CTD Gene-Disease Associations dataset. |
Mandibuloacral dysplasia with type B lipodystrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mandibuloacral dysplasia with type B lipodystrophy from the curated CTD Gene-Disease Associations dataset. |
CRANIOECTODERMAL DYSPLASIA 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CRANIOECTODERMAL DYSPLASIA 2 from the curated CTD Gene-Disease Associations dataset. |
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 from the curated CTD Gene-Disease Associations dataset. |
Focal cortical dysplasia of Taylor Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Focal cortical dysplasia of Taylor from the curated CTD Gene-Disease Associations dataset. |
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema from the curated CTD Gene-Disease Associations dataset. |
Multicystic renal dysplasia, bilateral Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Multicystic renal dysplasia, bilateral from the curated CTD Gene-Disease Associations dataset. |
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness from the curated CTD Gene-Disease Associations dataset. |
Cranioectodermal Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cranioectodermal Dysplasia from the curated CTD Gene-Disease Associations dataset. |
TERMINAL OSSEOUS DYSPLASIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease TERMINAL OSSEOUS DYSPLASIA from the curated CTD Gene-Disease Associations dataset. |
Thanatophoric Dysplasia, Type I Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thanatophoric Dysplasia, Type I from the curated CTD Gene-Disease Associations dataset. |
Acromicric dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Acromicric dysplasia from the curated CTD Gene-Disease Associations dataset. |
Langer mesomelic dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Langer mesomelic dysplasia from the curated CTD Gene-Disease Associations dataset. |
Cleidocranial Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cleidocranial Dysplasia from the curated CTD Gene-Disease Associations dataset. |
FRONTONASAL DYSPLASIA 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease FRONTONASAL DYSPLASIA 1 from the curated CTD Gene-Disease Associations dataset. |
FRONTONASAL DYSPLASIA 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease FRONTONASAL DYSPLASIA 2 from the curated CTD Gene-Disease Associations dataset. |
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset. |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spondylo-Megaepiphyseal-Metaphyseal Dysplasia from the curated CTD Gene-Disease Associations dataset. |
Spondyloepiphyseal Dysplasia Tarda, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spondyloepiphyseal Dysplasia Tarda, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Polyostotic osteolytic dysplasia, hereditary expansile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polyostotic osteolytic dysplasia, hereditary expansile from the curated CTD Gene-Disease Associations dataset. |
FRONTONASAL DYSPLASIA 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease FRONTONASAL DYSPLASIA 3 from the curated CTD Gene-Disease Associations dataset. |
Schimke immunoosseous dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Schimke immunoosseous dysplasia from the curated CTD Gene-Disease Associations dataset. |
Ectodermal Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal Dysplasia from the curated CTD Gene-Disease Associations dataset. |
ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE from the curated CTD Gene-Disease Associations dataset. |
Immunodeficiency without anhidrotic ectodermal dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immunodeficiency without anhidrotic ectodermal dysplasia from the curated CTD Gene-Disease Associations dataset. |
Craniofrontonasal dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Craniofrontonasal dysplasia from the curated CTD Gene-Disease Associations dataset. |
Oculodentodigital Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Oculodentodigital Dysplasia from the curated CTD Gene-Disease Associations dataset. |
Anal sphincter dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anal sphincter dysplasia from the curated CTD Gene-Disease Associations dataset. |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Platyspondylic Lethal Skeletal Dysplasia, Torrance Type from the curated CTD Gene-Disease Associations dataset. |
Anauxetic dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anauxetic dysplasia from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Skeletal Dysplasia, and Abducens Palsy from the curated CTD Gene-Disease Associations dataset. |
Hypopituitarism and septooptic 'dysplasia' Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypopituitarism and septooptic 'dysplasia' from the curated CTD Gene-Disease Associations dataset. |
Odontoonychodermal dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Odontoonychodermal dysplasia from the curated CTD Gene-Disease Associations dataset. |
Spondylometaphyseal dysplasia, Kozlowski type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spondylometaphyseal dysplasia, Kozlowski type from the curated CTD Gene-Disease Associations dataset. |
Cortical Dysplasia-Focal Epilepsy Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cortical Dysplasia-Focal Epilepsy Syndrome from the curated CTD Gene-Disease Associations dataset. |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 from the curated CTD Gene-Disease Associations dataset. |
SPONDYLOPERIPHERAL DYSPLASIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SPONDYLOPERIPHERAL DYSPLASIA from the curated CTD Gene-Disease Associations dataset. |
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 from the curated CTD Gene-Disease Associations dataset. |
Spondyloepiphyseal Dysplasia, Kimberley Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spondyloepiphyseal Dysplasia, Kimberley Type from the curated CTD Gene-Disease Associations dataset. |
Craniometaphyseal Dysplasia, Autosomal Dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Craniometaphyseal Dysplasia, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset. |
Schneckenbecken dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Schneckenbecken dysplasia from the curated CTD Gene-Disease Associations dataset. |
Thanatophoric Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thanatophoric Dysplasia from the curated CTD Gene-Disease Associations dataset. |
Ectodermal dysplasia/ skin fragility syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal dysplasia/ skin fragility syndrome from the curated CTD Gene-Disease Associations dataset. |
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Ghosal Hematodiaphyseal Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ghosal Hematodiaphyseal Dysplasia from the curated CTD Gene-Disease Associations dataset. |
Smith-McCort Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Smith-McCort Dysplasia from the curated CTD Gene-Disease Associations dataset. |
Diastrophic dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diastrophic dysplasia from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 from the curated CTD Gene-Disease Associations dataset. |
Fibrous Dysplasia, Polyostotic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fibrous Dysplasia, Polyostotic from the curated CTD Gene-Disease Associations dataset. |
RETINAL DYSPLASIA, PRIMARY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease RETINAL DYSPLASIA, PRIMARY from the curated CTD Gene-Disease Associations dataset. |
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE from the curated CTD Gene-Disease Associations dataset. |
Fibrous Dysplasia of Bone Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fibrous Dysplasia of Bone from the curated CTD Gene-Disease Associations dataset. |
Metaphyseal Dysplasia without Hypotrichosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Metaphyseal Dysplasia without Hypotrichosis from the curated CTD Gene-Disease Associations dataset. |
OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA from the curated CTD Gene-Disease Associations dataset. |
Boomerang dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Boomerang dysplasia from the curated CTD Gene-Disease Associations dataset. |
Pelviscapular dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pelviscapular dysplasia from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 from the curated CTD Gene-Disease Associations dataset. |
GELEOPHYSIC DYSPLASIA 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease GELEOPHYSIC DYSPLASIA 1 from the curated CTD Gene-Disease Associations dataset. |
Torticollis keloids cryptorchidism renal dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Torticollis keloids cryptorchidism renal dysplasia from the curated CTD Gene-Disease Associations dataset. |
Campomelic Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Campomelic Dysplasia from the curated CTD Gene-Disease Associations dataset. |
Alveolar capillary dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alveolar capillary dysplasia from the curated CTD Gene-Disease Associations dataset. |
Ischiopatellar dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ischiopatellar dysplasia from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 from the curated CTD Gene-Disease Associations dataset. |
ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE from the curated CTD Gene-Disease Associations dataset. |
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 from the curated CTD Gene-Disease Associations dataset. |
Renal hepatic pancreatic dysplasia Dandy Walker cyst Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Renal hepatic pancreatic dysplasia Dandy Walker cyst 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. |
Nail dysplasia, isolated congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nail dysplasia, isolated congenital from the curated CTD Gene-Disease Associations dataset. |
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 from the curated CTD Gene-Disease Associations dataset. |
DENTIN DYSPLASIA, TYPE II Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease DENTIN DYSPLASIA, TYPE II from the curated CTD Gene-Disease Associations dataset. |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 from the curated CTD Gene-Disease Associations dataset. |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type from the curated CTD Gene-Disease Associations dataset. |
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies from the curated CTD Gene-Disease Associations dataset. |
Mandibuloacral dysplasia with type A lipodystrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mandibuloacral dysplasia with type A lipodystrophy from the curated CTD Gene-Disease Associations dataset. |
Oculodentodigital Dysplasia, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Oculodentodigital Dysplasia, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Spondyloepimetaphyseal Dysplasia, Missouri Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Missouri Type from the curated CTD Gene-Disease Associations dataset. |
SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS from the curated CTD Gene-Disease Associations dataset. |
Acromesomelic dysplasia, Maroteaux type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Acromesomelic dysplasia, Maroteaux type from the curated CTD Gene-Disease Associations dataset. |
Ectodermal Dysplasia 1, Anhidrotic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal Dysplasia 1, Anhidrotic from the curated CTD Gene-Disease Associations dataset. |
ACROPECTOROVERTEBRAL DYSPLASIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ACROPECTOROVERTEBRAL DYSPLASIA from the curated CTD Gene-Disease Associations dataset. |
Spondyloepiphyseal dysplasia, congenita Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spondyloepiphyseal dysplasia, congenita from the curated CTD Gene-Disease Associations dataset. |
Spondyloepimetaphyseal Dysplasia, Pakistani Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Pakistani Type from the curated CTD Gene-Disease Associations dataset. |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Aggrecan Type from the curated CTD Gene-Disease Associations dataset. |
Parietal Foramina With Cleidocranial Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Parietal Foramina With Cleidocranial Dysplasia from the curated CTD Gene-Disease Associations dataset. |
Eiken Skeletal Dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Eiken Skeletal Dysplasia from the curated CTD Gene-Disease Associations dataset. |
Kniest dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Kniest dysplasia from the curated CTD Gene-Disease Associations dataset. |
SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY from the curated CTD Gene-Disease Associations dataset. |
Frontonasal dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Frontonasal dysplasia from the curated CTD Gene-Disease Associations dataset. |
Ectodermal dysplasia, hypohidrotic, with immune deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal dysplasia, hypohidrotic, with immune deficiency from the curated CTD Gene-Disease Associations dataset. |
Epiphyseal dysplasia, multiple, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 1 from the curated CTD Gene-Disease Associations dataset. |
Epiphyseal dysplasia, multiple, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 3 from the curated CTD Gene-Disease Associations dataset. |
Epiphyseal dysplasia, multiple, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 2 from the curated CTD Gene-Disease Associations dataset. |
Epiphyseal dysplasia, multiple, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 5 from the curated CTD Gene-Disease Associations dataset. |
Epiphyseal dysplasia, multiple, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 4 from the curated CTD Gene-Disease Associations dataset. |
Hip Dysplasia, Beukes Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hip Dysplasia, Beukes Type from the curated CTD Gene-Disease Associations dataset. |
craniometaphyseal dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease craniometaphyseal dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
spondyloepimetaphyseal dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease spondyloepimetaphyseal dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
thanatophoric dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease thanatophoric dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
campomelic dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease campomelic dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
otospondylomegaepiphyseal dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease otospondylomegaepiphyseal dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
kniest dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease kniest dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
sost-related sclerosing bone dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease sost-related sclerosing bone dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
boomerang dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease boomerang dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
cleidocranial dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease cleidocranial dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
spondyloepiphyseal dysplasia congenita Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease spondyloepiphyseal dysplasia congenita from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
spondyloepimetaphyseal dysplasia, strudwick type Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease spondyloepimetaphyseal dysplasia, strudwick type from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
diastrophic dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease diastrophic dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
hypohidrotic ectodermal dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease hypohidrotic ectodermal dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
multiple epiphyseal dysplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease multiple epiphyseal dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
thanatophoric dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease thanatophoric dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
metaphyseal dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease metaphyseal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
spondyloepimetaphyseal dysplasia, strudwick type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease spondyloepimetaphyseal dysplasia, strudwick type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
dentin dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease dentin dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
spondyloepimetaphyseal dysplasia, missouri type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease spondyloepimetaphyseal dysplasia, missouri type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
spondyloepiphyseal dysplasia congenita Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease spondyloepiphyseal dysplasia congenita in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
spondyloepimetaphyseal dysplasia, sponastrime type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease spondyloepimetaphyseal dysplasia, sponastrime type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
multiple epiphyseal dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease multiple epiphyseal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
acromesomelic dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease acromesomelic dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
anauxetic dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease anauxetic dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
craniometaphyseal dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease craniometaphyseal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
sost-related sclerosing bone dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease sost-related sclerosing bone dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cleidocranial dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cleidocranial dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
benign mammary dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease benign mammary dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
acromesomelic dysplasia, maroteaux type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease acromesomelic dysplasia, maroteaux type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
schneckenbecken dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease schneckenbecken dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
otospondylomegaepiphyseal dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease otospondylomegaepiphyseal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
craniodiaphyseal dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease craniodiaphyseal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
diastrophic dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease diastrophic dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
thymic dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease thymic dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
hypohidrotic ectodermal dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease hypohidrotic ectodermal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
campomelic dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease campomelic dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
spondyloepimetaphyseal dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease spondyloepimetaphyseal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
kniest dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease kniest dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
boomerang dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease boomerang dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
acrocapitofemoral dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease acrocapitofemoral dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
fibrous dysplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease fibrous dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
achondroplasia; musculoskeletal abnormalities; osteochondrodysplasias; thanatophoric dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease achondroplasia; musculoskeletal abnormalities; osteochondrodysplasias; thanatophoric dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
multiple epiphyseal dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease multiple epiphyseal dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fibromuscular dysplasia; hypertension; renal artery obstruction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fibromuscular dysplasia; hypertension; renal artery obstruction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
thanatophoric dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease thanatophoric dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arrhythmogenic right ventricular dysplasia; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
intestinal neuronal dysplasia type b (ind b) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease intestinal neuronal dysplasia type b (ind b) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia; tachycardia, ventricular Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arrhythmogenic right ventricular dysplasia; tachycardia, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia; heart failure Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arrhythmogenic right ventricular dysplasia; heart failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
multiple epiphyseal dysplasia; pseudoachondroplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease multiple epiphyseal dysplasia; pseudoachondroplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arrhythmogenic right ventricular cardiomyopathy/dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arrhythmogenic right ventricular cardiomyopathy/dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ectodermal dysplasia; esophageal neoplasms; neoplasms, squamous cell; oesophageal neoplasm Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ectodermal dysplasia; esophageal neoplasms; neoplasms, squamous cell; oesophageal neoplasm in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia; cardiomyopathies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arrhythmogenic right ventricular dysplasia; cardiomyopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia; syncope Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arrhythmogenic right ventricular dysplasia; syncope in GWAS and other genetic association datasets from the GAD 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. |
bone neoplasms; fibrous dysplasia, polyostotic; ossification, heterotopic; osteoma; pseudohypoparathyroidism; skin neoplasms; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bone neoplasms; fibrous dysplasia, polyostotic; ossification, heterotopic; osteoma; pseudohypoparathyroidism; skin neoplasms; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
spondyloepiphyseal dysplasia tall stature and precocious osteoarthritis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease spondyloepiphyseal dysplasia tall stature and precocious osteoarthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
osteoarthritis; hip dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease osteoarthritis; hip dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fibrous dysplasia of bone; osteitis fibrosa disseminata; osteosarcoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fibrous dysplasia of bone; osteitis fibrosa disseminata; osteosarcoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
pseudoachondroplasia and multiple epiphyseal dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease pseudoachondroplasia and multiple epiphyseal dysplasia 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. |
strudwick variant of spondyloepimetaphyseal dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease strudwick variant of spondyloepimetaphyseal dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
multiple oesophageal dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease multiple oesophageal dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
risk of cervical dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease risk of cervical dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia; death, sudden, cardiac; sudden cardiac death Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arrhythmogenic right ventricular dysplasia; death, sudden, cardiac; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hpv-associated cervical dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hpv-associated cervical dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arrhythmogenic right ventricular dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autosomal dominant anhidrotic ectodermal dysplasia and t cell immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autosomal dominant anhidrotic ectodermal dysplasia and t cell immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleidocranial dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleidocranial dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arrhythmias, cardiac; arrhythmogenic right ventricular dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arrhythmias, cardiac; arrhythmogenic right ventricular dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip; cleft palate; ectodermal dysplasia; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip; cleft palate; ectodermal dysplasia; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fibrous dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fibrous dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dysplasia Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term dysplasia in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
nail dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the nail dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
retinal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the retinal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
multiple epiphyseal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the multiple epiphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
acetabular dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the acetabular dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
skeletal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the skeletal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hip dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the hip dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
chorioretinal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the chorioretinal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
metaphyseal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the metaphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
spondyloepimetaphyseal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the spondyloepimetaphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
fibrous dysplasia of the bones Gene SetFrom HPO Gene-Disease Associations genes associated with the fibrous dysplasia of the bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
frontoparietal cortical dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the frontoparietal cortical dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
lethal skeletal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the lethal skeletal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cortical dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the cortical dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
brainstem dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the brainstem dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
spondylometaphyseal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the spondylometaphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
polyostotic fibrous dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the polyostotic fibrous dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cystic renal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the cystic renal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
fingernail dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the fingernail dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
epiphyseal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the epiphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
ectodermal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the ectodermal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
spondyloepiphyseal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the spondyloepiphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
optic nerve dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the optic nerve dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
multicystic kidney dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the multicystic kidney dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hypohidrotic ectodermal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the hypohidrotic ectodermal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
polycystic kidney dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the polycystic kidney dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cerebellar dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the cerebellar dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hair-nail ectodermal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the hair-nail ectodermal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
toenail dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the toenail dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
renal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the renal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
diaphyseal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the diaphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
septo-optic dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the septo-optic dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
dysplasia of the femoral head Gene SetFrom HPO Gene-Disease Associations genes associated with the dysplasia of the femoral head phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Septo-Optic Dysplasia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Septo-Optic Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Ectodermal Dysplasia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Ectodermal Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Thanatophoric Dysplasia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Thanatophoric Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Fibromuscular Dysplasia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Fibromuscular Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Fibrous Dysplasia, Polyostotic Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Fibrous Dysplasia, Polyostotic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Fibrous Dysplasia of Bone Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Fibrous Dysplasia of Bone phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Cleidocranial Dysplasia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Cleidocranial Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Uterine Cervical Dysplasia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Uterine Cervical Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Arrhythmogenic Right Ventricular Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Adrenocortical dysplasia protein Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Adrenocortical dysplasia protein protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
?corneal intraepithelial dyskeratosis and ectodermal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?corneal intraepithelial dyskeratosis and ectodermal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
?epiphyseal dysplasia, multiple, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?epiphyseal dysplasia, multiple, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondyloperipheral dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondyloperipheral dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 10 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 10 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
acampomelic campomelic dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the acampomelic campomelic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
frontometaphyseal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the frontometaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
campomelic dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the campomelic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
metaphyseal dysplasia without hypotrichosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the metaphyseal dysplasia without hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 4 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 4 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
developmental dysplasia of the hip 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the developmental dysplasia of the hip 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
smith-mccort dysplasia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the smith-mccort dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
parietal foramina with cleidocranial dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the parietal foramina with cleidocranial dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
craniometaphyseal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniometaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
renal-hepatic-pancreatic dysplasia 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the renal-hepatic-pancreatic dysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 6, hair/nail type Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 6, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia/short stature syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia/short stature syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 6 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 6 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
craniofacial-skeletal-dermatologic dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniofacial-skeletal-dermatologic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
focal cortical dysplasia, taylor balloon cell type Gene SetFrom OMIM Gene-Disease Associations genes associated with the focal cortical dysplasia, taylor balloon cell type phenotype from the curated OMIM Gene-Disease Associations dataset. |
thanatophoric dysplasia, type i Gene SetFrom OMIM Gene-Disease Associations genes associated with the thanatophoric dysplasia, type i phenotype from the curated OMIM Gene-Disease Associations dataset. |
mandibuloacral dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the mandibuloacral dysplasia 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. |
diastrophic dysplasia, broad bone-platyspondylic variant Gene SetFrom OMIM Gene-Disease Associations genes associated with the diastrophic dysplasia, broad bone-platyspondylic variant phenotype from the curated OMIM Gene-Disease Associations dataset. |
cleft lip/palate-ectodermal dysplasia syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the cleft lip/palate-ectodermal dysplasia syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
otospondylomegaepiphyseal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the otospondylomegaepiphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
boomerang dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the boomerang dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
frontonasal dysplasia 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the frontonasal dysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
frontonasal dysplasia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the frontonasal dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
craniolenticulosutural dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniolenticulosutural dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cranioectodermal dysplasia 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cranioectodermal dysplasia 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cranioectodermal dysplasia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cranioectodermal dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cranioectodermal dysplasia 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cranioectodermal dysplasia 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cranioectodermal dysplasia 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cranioectodermal dysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 7 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 7 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 3, witkop type Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 3, witkop type phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondylometaepiphyseal dysplasia, short limb-hand type Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondylometaepiphyseal dysplasia, short limb-hand type phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 7, hair/nail type Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 7, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset. |
oculodentodigital dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the oculodentodigital dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
greenberg skeletal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the greenberg skeletal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
acromesomelic dysplasia, maroteaux type Gene SetFrom OMIM Gene-Disease Associations genes associated with the acromesomelic dysplasia, maroteaux type phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 11 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 11 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 5, hair/nail type Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 5, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset. |
smith-mccort dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the smith-mccort dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
craniodiaphyseal dysplasia, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniodiaphyseal dysplasia, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
epiphyseal dysplasia, multiple, with myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the epiphyseal dysplasia, multiple, with myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
septooptic dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the septooptic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
acromesomelic dysplasia, hunter-thompson type Gene SetFrom OMIM Gene-Disease Associations genes associated with the acromesomelic dysplasia, hunter-thompson type phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondyloepimetaphyseal dysplasia, missouri type Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondyloepimetaphyseal dysplasia, missouri type phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
macrocephaly with multiple epiphyseal dysplasia and distinctive facies Gene SetFrom OMIM Gene-Disease Associations genes associated with the macrocephaly with multiple epiphyseal dysplasia and distinctive facies phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondyloepiphyseal dysplasia tarda Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondyloepiphyseal dysplasia tarda phenotype from the curated OMIM Gene-Disease Associations dataset. |
autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondyloepimetaphyseal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondyloepimetaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 1, hypohidrotic, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 1, hypohidrotic, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
diastrophic dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the diastrophic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
platyspondylic skeletal dysplasia, torrance type Gene SetFrom OMIM Gene-Disease Associations genes associated with the platyspondylic skeletal dysplasia, torrance type phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia-syndactyly syndrome 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia-syndactyly syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
schneckenbecken dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the schneckenbecken dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
dentin dysplasia, type ii Gene SetFrom OMIM Gene-Disease Associations genes associated with the dentin dysplasia, type ii phenotype from the curated OMIM Gene-Disease Associations dataset. |
de la chapelle dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the de la chapelle dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortical dysplasia-focal epilepsy syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortical dysplasia-focal epilepsy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
craniometaphyseal dysplasia, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniometaphyseal dysplasia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 4, hair/nail type Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 4, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset. |
alveolar capillary dysplasia with misalignment of pulmonary veins Gene SetFrom OMIM Gene-Disease Associations genes associated with the alveolar capillary dysplasia with misalignment of pulmonary veins phenotype from the curated OMIM Gene-Disease Associations dataset. |
kniest dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the kniest dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
otodental dysplasia chromsome deletion syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the otodental dysplasia chromsome deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
epiphyseal dysplasia, multiple, with myopia and deafness Gene SetFrom OMIM Gene-Disease Associations genes associated with the epiphyseal dysplasia, multiple, with myopia and deafness phenotype from the curated OMIM Gene-Disease Associations dataset. |
acrocapitofemoral dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the acrocapitofemoral dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondylometaphyseal dysplasia with cone-rod dystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondylometaphyseal dysplasia with cone-rod dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondyloepiphyseal dysplasia tarda with progressive arthropathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondyloepiphyseal dysplasia tarda with progressive arthropathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
craniofrontonasal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniofrontonasal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
{renal dysplasia, cystic, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {renal dysplasia, cystic, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
langer mesomelic dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the langer mesomelic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
vitreoretinopathy with phalangeal epiphyseal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the vitreoretinopathy with phalangeal epiphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
bent bone dysplasia syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the bent bone dysplasia syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
acromicric dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the acromicric dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 9 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 9 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
acropectorovertebral dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the acropectorovertebral dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
dentin dysplasia, type i, with microdontia and misshapen teeth Gene SetFrom OMIM Gene-Disease Associations genes associated with the dentin dysplasia, type i, with microdontia and misshapen teeth phenotype from the curated OMIM Gene-Disease Associations dataset. |
?cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondylometaphyseal dysplasia, kozlowski type Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondylometaphyseal dysplasia, kozlowski type phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia 10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypoparathyroidism, sensorineural deafness, and renal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypoparathyroidism, sensorineural deafness, and renal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation-skeletal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation-skeletal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
desbuquois dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the desbuquois dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondylo-megaepiphyseal-metaphyseal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondylo-megaepiphyseal-metaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
anauxetic dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the anauxetic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 3 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 3 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
epiphyseal dysplasia, multiple 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epiphyseal dysplasia, multiple 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 9, hair/nail type Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 9, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset. |
cleidocranial dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the cleidocranial dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia/skin fragility syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia/skin fragility syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
gnathodiaphyseal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the gnathodiaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
focal facial dermal dysplasia 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the focal facial dermal dysplasia 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondyloepimetaphyseal dysplasia with joint laxity, type 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondyloepimetaphyseal dysplasia with joint laxity, type 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 8, hair/tooth/nail type Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 8, hair/tooth/nail type phenotype from the curated OMIM Gene-Disease Associations dataset. |
schimke immunoosseous dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the schimke immunoosseous dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia, hypohidrotic, with immune deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia, hypohidrotic, with immune deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 8 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 8 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia-syndactyly syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia-syndactyly syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia, familial, 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia, familial, 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mandibuloacral dysplasia with type b lipodystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the mandibuloacral dysplasia with type b lipodystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
terminal osseous dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the terminal osseous dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
desbuquois dysplasia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the desbuquois dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?frontonasal dysplasia 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?frontonasal dysplasia 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epiphyseal dysplasia, multiple, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epiphyseal dysplasia, multiple, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epiphyseal dysplasia, multiple, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epiphyseal dysplasia, multiple, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epiphyseal dysplasia, multiple, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epiphyseal dysplasia, multiple, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epiphyseal dysplasia, multiple, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epiphyseal dysplasia, multiple, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiac valvular dysplasia, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiac valvular dysplasia, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
campomelic dysplasia with autosomal sex reversal Gene SetFrom OMIM Gene-Disease Associations genes associated with the campomelic dysplasia with autosomal sex reversal phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
geleophysic dysplasia 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the geleophysic dysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
geleophysic dysplasia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the geleophysic dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
dyssegmental dysplasia, silverman-handmaker type Gene SetFrom OMIM Gene-Disease Associations genes associated with the dyssegmental dysplasia, silverman-handmaker type phenotype from the curated OMIM Gene-Disease Associations dataset. |
gracile bone dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the gracile bone dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 2 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 2 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
odontoonychodermal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the odontoonychodermal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
hip dysplasia, beukes type Gene SetFrom OMIM Gene-Disease Associations genes associated with the hip dysplasia, beukes type phenotype from the curated OMIM Gene-Disease Associations dataset. |
cleidocranial dysplasia, forme fruste, with brachydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the cleidocranial dysplasia, forme fruste, with brachydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortical dysplasia, complex, with other brain malformations 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortical dysplasia, complex, with other brain malformations 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortical dysplasia, complex, with other brain malformations 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortical dysplasia, complex, with other brain malformations 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortical dysplasia, complex, with other brain malformations 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortical dysplasia, complex, with other brain malformations 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortical dysplasia, complex, with other brain malformations 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortical dysplasia, complex, with other brain malformations 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortical dysplasia, complex, with other brain malformations 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortical dysplasia, complex, with other brain malformations 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortical dysplasia, complex, with other brain malformations 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortical dysplasia, complex, with other brain malformations 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair phenotype from the curated OMIM Gene-Disease Associations dataset. |
focal facial dermal dysplasia 3, setleis type Gene SetFrom OMIM Gene-Disease Associations genes associated with the focal facial dermal dysplasia 3, setleis type phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 5 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 5 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
czech dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the czech dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondyloepimetaphyseal dysplasia, aggrecan type Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondyloepimetaphyseal dysplasia, aggrecan type phenotype from the curated OMIM Gene-Disease Associations dataset. |
oculodentodigital dysplasia, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the oculodentodigital dysplasia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
mesomelic dysplasia, kantaputra type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mesomelic dysplasia, kantaputra type 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. |
spondyloepiphyseal dysplasia, kimberley type Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondyloepiphyseal dysplasia, kimberley type phenotype from the curated OMIM Gene-Disease Associations dataset. |
metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
metatropic dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the metatropic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
thanatophoric dysplasia, type ii Gene SetFrom OMIM Gene-Disease Associations genes associated with the thanatophoric dysplasia, type ii phenotype from the curated OMIM Gene-Disease Associations dataset. |
?renal-hepatic-pancreatic dysplasia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?renal-hepatic-pancreatic dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
osteoglophonic dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the osteoglophonic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondyloepiphyseal dysplasia with congenital joint dislocations Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondyloepiphyseal dysplasia with congenital joint dislocations phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia 2, clouston type Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 2, clouston type phenotype from the curated OMIM Gene-Disease Associations dataset. |
Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD) Gene Setproteins participating in the Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD) pathway from the Reactome Pathways dataset. |
Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4) Gene Setproteins participating in the Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4) pathway from the Reactome Pathways dataset. |
Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD) Gene Setproteins participating in the Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD) pathway from the Reactome Pathways dataset. |
chronic ulcerative colitis (CUC), ulcerative colitis?associated dysplasia (UCD), colitis-associated cancer (CAC) Gene SetFrom PhosphoSitePlus Phosphosite-Disease Associations proteins associated with the disease chronic ulcerative colitis (CUC), ulcerative colitis?associated dysplasia (UCD), colitis-associated cancer (CAC) from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset. |
Congenital Dysplasia Of The Hip Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Dysplasia Of The Hip in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nail Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nail Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alveolar Capillary Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alveolar Capillary Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Myeloid Leukemia With Multilineage Dysplasia Following Myelodysplastic Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Myeloid Leukemia With Multilineage Dysplasia Following Myelodysplastic Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pyle Metaphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pyle Metaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Skeletal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Skeletal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ectodermal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ectodermal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dysplasia Of Anus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dysplasia Of Anus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multiple Epiphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multiple Epiphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spondyloepiphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spondyloepiphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polyostotic Fibrous Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polyostotic Fibrous Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Arrhythmogenic Right Ventricular Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Campomelic Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Campomelic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Craniometaphyseal Dysplasia, Autosomal Dominant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Craniometaphyseal Dysplasia, Autosomal Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Diastrophic Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Diastrophic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neuronal Intestinal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neuronal Intestinal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Thanatophoric Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Thanatophoric Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Thanatophoric Dysplasia, Type I (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Thanatophoric Dysplasia, Type I (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fibrous Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fibrous Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Primary Pigmented Nodular Adrenal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Primary Pigmented Nodular Adrenal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Pseudorheumatoid Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Pseudorheumatoid Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cervical Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cervical Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fibromuscular Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fibromuscular Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Smith-Mccort Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Smith-Mccort Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dentin Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dentin Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lethal Skeletal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lethal Skeletal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bone Marrow Myeloid Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bone Marrow Myeloid Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acromicric Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acromicric Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cleidocranial Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cleidocranial Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Geleophysic Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Geleophysic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Craniofacial Fibrous Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Craniofacial Fibrous Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hip Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hip Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cortical Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cortical Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Esophageal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Esophageal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mesomelic Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mesomelic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Focal Cortical Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Focal Cortical Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spondylometaphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spondylometaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitral Valve Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitral Valve Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autoimmune Polyendocrinopathy Syndrome, Type I, With Reversible Metaphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autoimmune Polyendocrinopathy Syndrome, Type I, With Reversible Metaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Schimke Immunoosseous Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Schimke Immunoosseous Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Focal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Focal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Renal Dysplasia And Retinal Aplasia (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Renal Dysplasia And Retinal Aplasia (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Craniofrontonasal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Craniofrontonasal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Frontonasal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Frontonasal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Osteofibrous Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Osteofibrous Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Craniodiaphyseal Dysplasia, Autosomal Dominant (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Craniodiaphyseal Dysplasia, Autosomal Dominant (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cranioectodermal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cranioectodermal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Craniometaphyseal Dysplasia, Autosomal Recessive Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Craniometaphyseal Dysplasia, Autosomal Recessive Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Florid Cemento-Osseous Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Florid Cemento-Osseous Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Septo-Optic Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Septo-Optic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Frontometaphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Frontometaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Renal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Renal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Prostatic Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Prostatic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Refractory Cytopenia With Multilineage Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Refractory Cytopenia With Multilineage Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Epiphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Epiphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Renal Cell Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Renal Cell Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Retinal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Retinal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hidrotic Ectodermal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hidrotic Ectodermal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chorioretinal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chorioretinal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spondyloepimetaphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spondyloepimetaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Gastric Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Gastric Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cystic Renal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cystic Renal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acromesomelic Dysplasia Hunter-Thompson Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acromesomelic Dysplasia Hunter-Thompson Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acromesomelic Dysplasia, Demirhan Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acromesomelic Dysplasia, Demirhan Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Unilateral Renal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Unilateral Renal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Desbuquois Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Desbuquois Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cerebellar Cortical Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cerebellar Cortical Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dysplasia Of Larynx Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dysplasia Of Larynx in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Moderate Pancreatic Duct Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Moderate Pancreatic Duct Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Refractory Cytopenia With Multilineage Dysplasia (Rcmd) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Refractory Cytopenia With Multilineage Dysplasia (Rcmd) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dyssegmental Dysplasia, Rolland-Desbuquois Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dyssegmental Dysplasia, Rolland-Desbuquois Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hyper-Igm Immunodeficiency, X-Linked, With Ectodermal Dysplasia, Hypohidrotic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hyper-Igm Immunodeficiency, X-Linked, With Ectodermal Dysplasia, Hypohidrotic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Transitional Cell Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Transitional Cell Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acampomelic Campomelic Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acampomelic Campomelic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Craniodiaphyseal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Craniodiaphyseal Dysplasia 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. |
Short-Rib Thoracic Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short-Rib Thoracic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hydranencephaly With Renal Aplasia-Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hydranencephaly With Renal Aplasia-Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |