Hunter'S Syndrome, Mild Form

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Results for "Hunter'S Syndrome, Mild Form": 1001 gene sets

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Hunter'S Syndrome, Mild Form Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hunter'S Syndrome, Mild Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hunter'S Syndrome, Severe Form Gene Set From 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.
Maroteaux-Lamy Syndrome, Mild Form Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Maroteaux-Lamy Syndrome, Mild Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Idiopathic Infantile Hypercalcemia - Mild Form Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Idiopathic Infantile Hypercalcemia - Mild Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
MPS II - Hunter syndrome Gene Set From Reactome Pathways 2014 proteins participating in the MPS II - Hunter syndrome pathway from the Reactome Pathways dataset.
MPS II - Hunter syndrome Gene Set From Reactome Pathways 2024 proteins participating in the MPS II - Hunter syndrome pathway from the Reactome Pathways 2024 dataset.
Bolton Hunter-cholecystokinin nonapeptide Gene Set From CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Bolton Hunter-cholecystokinin nonapeptide from the curated CTD Gene-Chemical Interactions dataset.
ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE from the curated CTD Gene-Disease Associations dataset.
acromesomelic dysplasia, hunter-thompson type Gene Set From OMIM Gene-Disease Associations genes associated with the acromesomelic dysplasia, hunter-thompson type phenotype from the curated OMIM Gene-Disease Associations dataset.
Acromesomelic Dysplasia Hunter-Thompson Type Gene Set From 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, Hunter-Thompson type Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Acromesomelic dysplasia, Hunter-Thompson type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Hunter's organ Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Hunter's organ in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Vohwinkel Syndrome, Variant Form Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Vohwinkel Syndrome, Variant Form from the curated CTD Gene-Disease Associations dataset.
Ehlers-Danlos syndrome, cardiac valvular form Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ehlers-Danlos syndrome, cardiac valvular form from the curated CTD Gene-Disease Associations dataset.
Ehlers-Danlos syndrome, progeroid form Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ehlers-Danlos syndrome, progeroid form from the curated CTD Gene-Disease Associations dataset.
hyper-igm syndrome can form oligomers and trigger cd40-mediated signals Gene Set From GAD Gene-Disease Associations genes associated with the disease hyper-igm syndrome can form oligomers and trigger cd40-mediated signals in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
ehlers-danlos syndrome, cardiac valvular form Gene Set From OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome, cardiac valvular form phenotype from the curated OMIM Gene-Disease Associations dataset.
juvenile polyposis syndrome, infantile form Gene Set From OMIM Gene-Disease Associations genes associated with the juvenile polyposis syndrome, infantile form phenotype from the curated OMIM Gene-Disease Associations dataset.
Vohwinkel Syndrome, Variant Form Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Vohwinkel Syndrome, Variant Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
mild ehlers-danlos syndrome type iv Gene Set From GAD Gene-Disease Associations genes associated with the disease mild ehlers-danlos syndrome type iv in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
Ahdc1-Related Intellectual Disability, Obstructive Sleep Apnea, Mild Dysmorphism Syndrome Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ahdc1-Related Intellectual Disability, Obstructive Sleep Apnea, Mild Dysmorphism Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Bjornstad Syndrome With Mild Mitochondrial Complex Iii Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Bjornstad Syndrome With Mild Mitochondrial Complex Iii Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene Set From 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.
Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene Set From 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.
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital myotonia, autosomal dominant form Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital myotonia, autosomal dominant form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Osteogenesis imperfecta with normal sclerae, dominant form Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Osteogenesis imperfecta with normal sclerae, dominant form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Idiopathic fibrosing alveolitis, chronic form Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Idiopathic fibrosing alveolitis, chronic form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM Gene Set From ClinVar Gene-Phenotype Associations genes associated with the NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital myotonia, autosomal recessive form Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital myotonia, autosomal recessive form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM Gene Set From ClinVar Gene-Phenotype Associations genes associated with the NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
GLYCOGEN STORAGE DISEASE II, ADULT FORM Gene Set From ClinVar Gene-Phenotype Associations genes associated with the GLYCOGEN STORAGE DISEASE II, ADULT FORM phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ichthyosiform erythroderma, Brocq congenital, nonbullous form Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosiform erythroderma, Brocq congenital, nonbullous form from the curated CTD Gene-Disease Associations dataset.
Hepatorenal form of glycogen storage disease Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hepatorenal form of glycogen storage disease from the curated CTD Gene-Disease Associations dataset.
form agnosia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease form agnosia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
1,6-Fructose Diphosphate (Linear Form) Gene Set From DrugBank Drug Targets interacting proteins for the 1,6-Fructose Diphosphate (Linear Form) drug from the curated DrugBank Drug Targets dataset.
immunologically hyper-reactive form of onchocerciasis (sowda) Gene Set From GAD Gene-Disease Associations genes associated with the disease immunologically hyper-reactive form of onchocerciasis (sowda) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
form Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term form in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
y-form dna binding Gene Set From GO Molecular Function Annotations 2015 genes performing the y-form dna binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
latanoprost (free acid form) Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the latanoprost (free acid form) ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
misoprostol (free acid form) Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the misoprostol (free acid form) ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
butaprost (free acid form) Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the butaprost (free acid form) ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
bimatoprost (free acid form) Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the bimatoprost (free acid form) ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
abnormal form of the vertebral bodies Gene Set From HPO Gene-Disease Associations genes associated with the abnormal form of the vertebral bodies phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
PLUNC, long form Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the PLUNC, long form protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Phenylalanine-4-hydroxylase, tetrameric form Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Phenylalanine-4-hydroxylase, tetrameric form protein domain from the InterPro Predicted Protein Domain Annotations dataset.
failure to form blastocele Gene Set From MPO Gene-Phenotype Associations gene mutations causing the failure to form blastocele phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
failure to form egg cylinders Gene Set From MPO Gene-Phenotype Associations gene mutations causing the failure to form egg cylinders phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
polyglucosan body disease, adult form Gene Set From OMIM Gene-Disease Associations genes associated with the polyglucosan body disease, adult form phenotype from the curated OMIM Gene-Disease Associations dataset.
organism form Gene Set From TISSUES Curated Tissue Protein Expression Evidence Scores proteins highly expressed in the tissue organism form from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.
plant form Gene Set From TISSUES Curated Tissue Protein Expression Evidence Scores proteins highly expressed in the tissue plant form from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.
organism form Gene Set From TISSUES Experimental Tissue Protein Expression Evidence Scores proteins highly expressed in the tissue organism form in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset.
plant form Gene Set From TISSUES Experimental Tissue Protein Expression Evidence Scores proteins highly expressed in the tissue plant form in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset.
procyclic form Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue procyclic form in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
bloodstream form Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue bloodstream form in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
metacyclic form Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue metacyclic form in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
fungus form Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue fungus form in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
trypanosomoid form Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue trypanosomoid form in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
organism form Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue organism form in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
plant form Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue plant form in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
sporozoan form Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue sporozoan form in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
protozoan form Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue protozoan form in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
Hepatic Form Of Wilson Disease Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Form Of Wilson Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Chronic Active Ebv Infection Of T-And Nk-Cell Type, Systemic Form Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Chronic Active Ebv Infection Of T-And Nk-Cell Type, Systemic Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Zoonotic Form Of Cutaneous Leishmaniasis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Zoonotic Form Of Cutaneous Leishmaniasis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Gsd Iv, Neumuscular Form Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Gsd Iv, Neumuscular Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Polyglucosan Body Disease, Adult Form Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Polyglucosan Body Disease, Adult Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Acropectorovertebral Dysplasia, F-Form Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Acropectorovertebral Dysplasia, F-Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Adult Form Of Celiac Disease Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Adult Form Of Celiac Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Scapuloperoneal Form Of Spinal Muscular Atrophy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Scapuloperoneal Form Of Spinal Muscular Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Abnormal Form Of The Vertebral Bodies Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Form Of The Vertebral Bodies in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Impaired Ability To Form Peer Relationships Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Impaired Ability To Form Peer Relationships in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
peptidyl-histidine methylation, to form tele-methylhistidine Gene Set From GO Biological Process Annotations 2023 genes participating in the peptidyl-histidine methylation, to form tele-methylhistidine biological process from the curated GO Biological Process Annotations 2023 dataset.
Y-form DNA binding Gene Set From GO Molecular Function Annotations 2023 genes performing the Y-form DNA binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.
Y-form DNA binding Gene Set From GO Molecular Function Annotations 2025 genes performing the Y-form DNA binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.
Form agnosia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Form agnosia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Organism form Gene Set From TISSUES Curated Tissue Protein Expression Evidence Scores 2025 proteins highly expressed in the tissue Organism form from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
Organism form Gene Set From TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 proteins highly expressed in the tissue Organism form in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset.
Organism form Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Organism form in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
Trypanosomoid form Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Trypanosomoid form in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
Sporozoan form Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Sporozoan form in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
Plant form Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Plant form in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
Protozoan form Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Protozoan form in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
Bloodstream form Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Bloodstream form in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
Procyclic form Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Procyclic form in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
Metacyclic form Gene Set From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Metacyclic form in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
yeast-form cell wall Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the yeast-form cell wall cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
Autosomal dominant optic atrophy classic form Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant optic atrophy classic form phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Disease progression to geographic atrophy form in age-related macular degeneration Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Disease progression to geographic atrophy form in age-related macular degeneration phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Disease progression to choroidal neovascularization form in age-related macular degeneration Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Disease progression to choroidal neovascularization form in age-related macular degeneration phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
INDOCYANINE GREEN ACID FORM Gene Set From DGIdb Drug Targets 2026 interacting proteins for the INDOCYANINE GREEN ACID FORM drug from theDGIdb Drug Targets 2026 dataset.
BUTAPROST (FREE ACID FORM) Gene Set From DGIdb Drug Targets 2026 interacting proteins for the BUTAPROST (FREE ACID FORM) drug from theDGIdb Drug Targets 2026 dataset.
BIMATOPROST (FREE ACID FORM) Gene Set From DGIdb Drug Targets 2026 interacting proteins for the BIMATOPROST (FREE ACID FORM) drug from theDGIdb Drug Targets 2026 dataset.
LATANOPROST (FREE ACID FORM) Gene Set From DGIdb Drug Targets 2026 interacting proteins for the LATANOPROST (FREE ACID FORM) drug from theDGIdb Drug Targets 2026 dataset.
TUMOUR NECROSIS FACTOR MEMBRANE FORM Gene Set From DGIdb Drug Targets 2026 interacting proteins for the TUMOUR NECROSIS FACTOR MEMBRANE FORM drug from theDGIdb Drug Targets 2026 dataset.
TUMOUR NECROSIS FACTOR SHED FORM Gene Set From DGIdb Drug Targets 2026 interacting proteins for the TUMOUR NECROSIS FACTOR SHED FORM drug from theDGIdb Drug Targets 2026 dataset.
digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair Gene Set From 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.
Metachromatic leukodystrophy, mild Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Metachromatic leukodystrophy, mild phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Sensorineural deafness with mild renal dysfunction Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Sensorineural deafness with mild renal dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
MUCOPOLYSACCHARIDOSIS, TYPE VI, MILD Gene Set From ClinVar Gene-Phenotype Associations genes associated with the MUCOPOLYSACCHARIDOSIS, TYPE VI, MILD phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
MONONEUROPATHY OF THE MEDIAN NERVE, MILD Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MONONEUROPATHY OF THE MEDIAN NERVE, MILD from the curated CTD Gene-Disease Associations dataset.
Osteoarthritis with Mild Chondrodysplasia Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Osteoarthritis with Mild Chondrodysplasia from the curated CTD Gene-Disease Associations dataset.
Mild Cognitive Impairment Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mild Cognitive Impairment from the curated CTD Gene-Disease Associations dataset.
mild pre-eclampsia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mild pre-eclampsia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
mild chondrodysplasia Gene Set From GAD Gene-Disease Associations genes associated with the disease mild chondrodysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
mild familial hypercholesterolemia Gene Set From GAD Gene-Disease Associations genes associated with the disease mild familial hypercholesterolemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
mild cognitive impairment Gene Set From GAD Gene-Disease Associations genes associated with the disease mild cognitive impairment in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
mild phenotype xeroderma pigmentosum Gene Set From GAD Gene-Disease Associations genes associated with the disease mild phenotype xeroderma pigmentosum in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
mild osteogenesis imperfecta Gene Set From GAD Gene-Disease Associations genes associated with the disease mild osteogenesis imperfecta in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
mild familial hypercholesterolaemia Gene Set From GAD Gene-Disease Associations genes associated with the disease mild familial hypercholesterolaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
mild and severe substance abuse Gene Set From 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.
mild hyperhomocysteinaemia Gene Set From GAD Gene-Disease Associations genes associated with the disease mild hyperhomocysteinaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
mild myotubular myopathy Gene Set From GAD Gene-Disease Associations genes associated with the disease mild myotubular myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
mild hdn Gene Set From GAD Gene-Disease Associations genes associated with the disease mild hdn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
mild dyslipidemia Gene Set From GAD Gene-Disease Associations genes associated with the disease mild dyslipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
mild gestational diabetes mellitus Gene Set From GAD Gene-Disease Associations genes associated with the disease mild gestational diabetes mellitus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
mild homocystinuria Gene Set From GAD Gene-Disease Associations genes associated with the disease mild homocystinuria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
mild Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term mild in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
mild postnatal growth retardation Gene Set From HPO Gene-Disease Associations genes associated with the mild postnatal growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
mild global developmental delay Gene Set From HPO Gene-Disease Associations genes associated with the mild global developmental delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
mild hearing impairment Gene Set From HPO Gene-Disease Associations genes associated with the mild hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
mild neurosensory hearing impairment Gene Set From HPO Gene-Disease Associations genes associated with the mild neurosensory hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
mild intrauterine growth retardation Gene Set From HPO Gene-Disease Associations genes associated with the mild intrauterine growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
mild short stature Gene Set From HPO Gene-Disease Associations genes associated with the mild short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
intellectual disability, mild Gene Set From HPO Gene-Disease Associations genes associated with the intellectual disability, mild phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
mild proteinuria Gene Set From HPO Gene-Disease Associations genes associated with the mild proteinuria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
maple syrup urine disease, mild variant Gene Set From OMIM Gene-Disease Associations genes associated with the maple syrup urine disease, mild variant phenotype from the curated OMIM Gene-Disease Associations dataset.
brachyolmia 4 with mild epiphyseal and metaphyseal changes Gene Set From OMIM Gene-Disease Associations genes associated with the brachyolmia 4 with mild epiphyseal and metaphyseal changes phenotype from the curated OMIM Gene-Disease Associations dataset.
obesity, mild, early-onset Gene Set From OMIM Gene-Disease Associations genes associated with the obesity, mild, early-onset phenotype from the curated OMIM Gene-Disease Associations dataset.
{malaria, mild, susceptibility to} Gene Set From OMIM Gene-Disease Associations genes associated with the {malaria, mild, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated OMIM Gene-Disease Associations dataset.
mononeuropathy of the median nerve, mild Gene Set From OMIM Gene-Disease Associations genes associated with the mononeuropathy of the median nerve, mild phenotype from the curated OMIM Gene-Disease Associations dataset.
osteoarthritis with mild chondrodysplasia Gene Set From OMIM Gene-Disease Associations genes associated with the osteoarthritis with mild chondrodysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.
[hyperphenylalaninemia, non-pku mild] Gene Set From OMIM Gene-Disease Associations genes associated with the [hyperphenylalaninemia, non-pku mild] phenotype from the curated OMIM Gene-Disease Associations dataset.
arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair Gene Set From 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.
sensorineural deafness with mild renal dysfunction Gene Set From OMIM Gene-Disease Associations genes associated with the sensorineural deafness with mild renal dysfunction phenotype from the curated OMIM Gene-Disease Associations dataset.
Mild Mental Retardation Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mild Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mild Cognitive Disorder Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mild Cognitive Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mild Expressive Language Delay Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mild Expressive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mild Bronchopulmonary Dysplasia Gene Set From 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.
Mild Dementia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mild Dementia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mild Non-Proliferative Diabetic Retinopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mild Non-Proliferative Diabetic Retinopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mild Neurosensory Hearing Impairment Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mild Neurosensory Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mild Persistent Asthma Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mild Persistent Asthma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mild Hereditary Factor Viii Deficiency Disease Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mild Hereditary Factor Viii Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Citrullinemia, Mild Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Citrullinemia, Mild in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mild Mood Disorder Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mild Mood Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Sensorineural Deafness With Mild Renal Dysfunction Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Sensorineural Deafness With Mild Renal Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mild Steroid 21-Hydroxylase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mild Steroid 21-Hydroxylase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mild Depression Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mild Depression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mild Fetal Ventriculomegaly Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mild Fetal Ventriculomegaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mcardle Disease, Mild Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mcardle Disease, Mild in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mild Hypermetropia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mild Hypermetropia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mononeuropathy Of The Median Nerve, Mild Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mononeuropathy Of The Median Nerve, Mild in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mild Global Developmental Delay Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mild Global Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Mild Postnatal Growth Retardation Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mild Postnatal Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Mild Short Stature Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mild Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Canavan Disease, Mild Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Canavan Disease, Mild in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Mild Hearing Impairment Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mild Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Mild Proteinuria Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mild Proteinuria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Mild Conductive Hearing Impairment Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mild Conductive Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Mild Microcephaly Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mild Microcephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Mild Intrauterine Growth Retardation Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mild Intrauterine Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Mild Eczema Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mild Eczema in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Mild Dysmorphic Features Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mild Dysmorphic Features in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Mild Myopia Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mild Myopia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Apparent Mineralocorticoid Excess, Mild Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Apparent Mineralocorticoid Excess, Mild in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Developmental Delay, Mild Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Developmental Delay, Mild in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Facial Dysmorphism, Mild Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Facial Dysmorphism, Mild in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Mild Adverse Event Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mild Adverse Event in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Mild Thrombocytopenia Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mild Thrombocytopenia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Mild Splenomegaly Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mild Splenomegaly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Mild Radial Hypoplasia Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mild Radial Hypoplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
H139Hfs13* PPM1K causes a mild variant of MSUD Gene Set From Reactome Pathways 2024 proteins participating in the H139Hfs13* PPM1K causes a mild variant of MSUD pathway from the Reactome Pathways 2024 dataset.
Mild cognitive impairment Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mild cognitive impairment in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Mild pre-eclampsia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mild pre-eclampsia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Persistent mild asthma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Persistent mild asthma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Mild non-PKU hyperphenylalanemia Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mild non-PKU hyperphenylalanemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mild hyperphenylalaninemia Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mild hyperphenylalaninemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mild Canavan disease Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mild Canavan disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mild hemophilia Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mild hemophilia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mild proteinuria Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mild proteinuria phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mild macrothrombocytopenia Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mild macrothrombocytopenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
CV-A6-associated hand, foot, and mouth disease (severe vs mild) Gene Set From 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.
Mild influenza (H1N1) infection Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Mild influenza (H1N1) infection phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Cognitive decline rate in late mild cognitive impairment Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cognitive decline rate in late mild cognitive impairment phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Rate of cognitive decline in mild cognitive impairment (time interaction) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Rate of cognitive decline in mild cognitive impairment (time interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
HIV-associated neurocognitive disorder (mild neurocognitive disorder or asymptomatic neurocognitive impairment) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the HIV-associated neurocognitive disorder (mild neurocognitive disorder or asymptomatic neurocognitive impairment) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
HIV-associated neurocognitive disorder (mild neurocognitive disorder) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the HIV-associated neurocognitive disorder (mild neurocognitive disorder) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Hematuria (mild) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hematuria (mild) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Glucosuria (mild) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Glucosuria (mild) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Proteinuria (mild) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Proteinuria (mild) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Ketonuria (mild) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Ketonuria (mild) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Erosive tooth wear (severe vs none or mild) Gene Set From 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.
Mild to moderate chronic kidney disease Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Mild to moderate chronic kidney disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Hippocampal volume in mild cognitive impairment Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hippocampal volume in mild cognitive impairment phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Logical memory (immediate recall) in mild cognitive impairment Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Logical memory (immediate recall) in mild cognitive impairment phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Logical memory (delayed recall) in mild cognitive impairment Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Logical memory (delayed recall) in mild cognitive impairment phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Cerebrospinal AB1-42 levels in mild cognitive impairment Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cerebrospinal AB1-42 levels in mild cognitive impairment phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Cerebrospinal fluid t-tau levels in mild cognitive impairment Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cerebrospinal fluid t-tau levels in mild cognitive impairment phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Cerebrospinal fluid p-tau levels in mild cognitive impairment Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cerebrospinal fluid p-tau levels in mild cognitive impairment phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Accelerated cognitive decline after conversion of mild cognitive impairment to Alzheimer's disease (Alzhiemer's diagnosis trajectory interaction) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Accelerated cognitive decline after conversion of mild cognitive impairment to Alzheimer's disease (Alzhiemer's diagnosis trajectory interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Recurrence of malaria infection (mild or asymptomatic) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Recurrence of malaria infection (mild or asymptomatic) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Recurrence of mild malaria attacks Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Recurrence of mild malaria attacks phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Mild obesity-related type 2 diabetes Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Mild obesity-related type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Mild age-related type 2 diabetes Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Mild age-related type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Lynch syndrome:Lynch syndrome:Lynch syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders Gene Set From GAD Gene-Disease Associations genes associated with the disease meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
Lynch syndrome:Turcot syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hereditary cancer-predisposing syndrome:Lynch syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Noonan syndrome and Noonan-related syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lynch syndrome:Hereditary cancer-predisposing syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lynch syndrome:Lynch syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Marfan's syndrome:Marfan's syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Marfan's syndrome:Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
IFAP syndrome with or without BRESHECK syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the IFAP syndrome with or without BRESHECK syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lynch syndrome I:Lynch syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome I:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Miller-McKusick-Malvaux-Syndrome (3M Syndrome) from the curated CTD Gene-Disease Associations dataset.
Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 from the curated CTD Gene-Disease Associations dataset.
menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene Set From GAD Gene-Disease Associations genes associated with the disease menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic Gene Set From GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries Gene Set From GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries Gene Set From GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
cornelia de lange syndrome; de lange syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease cornelia de lange syndrome; de lange syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
fatigue syndrome, chronic; fatigue syndrome; postviral Gene Set From GAD Gene-Disease Associations genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene Set From GAD Gene-Disease Associations genes associated with the disease resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia Gene Set From GAD Gene-Disease Associations genes associated with the disease obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene Set From GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections Gene Set From GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene Set From GAD Gene-Disease Associations genes associated with the disease lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness Gene Set From GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
restless legs syndrome; tourette syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene Set From GAD Gene-Disease Associations genes associated with the disease obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) Gene Set From GAD Gene-Disease Associations genes associated with the disease fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
behcet syndrome; uveomeningoencephalitic syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease behcet syndrome; uveomeningoencephalitic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
melas syndrome; merrf syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease melas syndrome; merrf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence Gene Set From GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene Set From GAD Gene-Disease Associations genes associated with the disease natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
infertility; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease infertility; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
angelman syndrome; rett syndrome; seizures Gene Set From GAD Gene-Disease Associations genes associated with the disease angelman syndrome; rett syndrome; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune Gene Set From GAD Gene-Disease Associations genes associated with the disease arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
adult respiratory distress syndrome; respiratory distress syndrome, adult Gene Set From GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
digeorge syndrome; memory disorders; pharyngeal pouch; syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; memory disorders; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult Gene Set From GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene Set From GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal Gene Set From GAD Gene-Disease Associations genes associated with the disease cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic Gene Set From GAD Gene-Disease Associations genes associated with the disease chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
metabolic syndrome ; metabolic syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease metabolic syndrome ; metabolic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
obesity; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease obesity; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
digeorge syndrome; pharyngeal pouch; syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral Gene Set From GAD Gene-Disease Associations genes associated with the disease fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene Set From GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) Gene Set From GAD Gene-Disease Associations genes associated with the disease birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene Set From GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death Gene Set From GAD Gene-Disease Associations genes associated with the disease brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma Gene Set From GAD Gene-Disease Associations genes associated with the disease adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection Gene Set From GAD Gene-Disease Associations genes associated with the disease acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
down syndrome; ehlers-danlos syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease down syndrome; ehlers-danlos syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
arthritis; felty's syndrome; large granular lymphocyte syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease arthritis; felty's syndrome; large granular lymphocyte syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia Gene Set From GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
insulin resistance; metabolic syndrome x; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene Set From GAD Gene-Disease Associations genes associated with the disease menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
heart-hand syndrome, holt-oram syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease heart-hand syndrome, holt-oram syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia Gene Set From GAD Gene-Disease Associations genes associated with the disease gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic Gene Set From GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura Gene Set From GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome Gene Set From OMIM Gene-Disease Associations genes associated with the stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.
digeorge syndrome/velocardiofacial syndrome complex-2 Gene Set From OMIM Gene-Disease Associations genes associated with the digeorge syndrome/velocardiofacial syndrome complex-2 phenotype from the curated OMIM Gene-Disease Associations dataset.
ifap syndrome with or without bresheck syndrome Gene Set From OMIM Gene-Disease Associations genes associated with the ifap syndrome with or without bresheck syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.
Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Crouzon syndrome-acanthosis nigricans syndrome Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Crouzon syndrome-acanthosis nigricans syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Crouzon syndrome-acanthosis nigricans syndrome Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Crouzon syndrome-acanthosis nigricans syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Noonan syndrome and Noonan-related syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Crouzon syndrome-acanthosis nigricans syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Crouzon syndrome-acanthosis nigricans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
X-linked cerebral-cerebellar-coloboma syndrome syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked cerebral-cerebellar-coloboma syndrome syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
visceral fat deposits and the metabolic syndrome Gene Set From Biocarta Pathways proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset.
Branchiootic syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Branchiootic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bartter syndrome, type 3, with hypocalciuria Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome, type 3, with hypocalciuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Multiple synostoses syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Multiple synostoses syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Sjögren-Larsson syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Sjögren-Larsson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hennekam lymphangiectasia-lymphedema syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hennekam lymphangiectasia-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
UV-sensitive syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the UV-sensitive syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Foveal hypoplasia and presenile cataract syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Foveal hypoplasia and presenile cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Short rib-polydactyly syndrome, Majewski type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Short rib-polydactyly syndrome, Majewski type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Char syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Char syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Fragile X syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Fragile X syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Shwachman syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Shwachman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Greig cephalopolysyndactyly syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Greig cephalopolysyndactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Melnick-Fraser syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Melnick-Fraser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Marfan's syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Melnick-Needles syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Melnick-Needles syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Branchiootorenal syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Branchiootorenal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
PTEN hamartoma tumor syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the PTEN hamartoma tumor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lesch-Nyhan syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lesch-Nyhan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Oculofaciocardiodental syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Oculofaciocardiodental syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Robinow Sorauf syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Robinow Sorauf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
17q2131 microdeletion syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the 17q2131 microdeletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Desbuquois syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Desbuquois syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Macrocephaly/autism syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Macrocephaly/autism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nephrotic syndrome, type 9 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nephrotic syndrome, type 8 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mohr-Tranebjaerg syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mohr-Tranebjaerg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Osteopenic nonfracture syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Osteopenic nonfracture syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Barakat syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Barakat syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Raine syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Raine syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Digitorenocerebral syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Digitorenocerebral syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bare Lymphocyte Syndrome, Type II, Complementation Group D Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bare Lymphocyte Syndrome, Type II, Complementation Group D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ataxia-telangiectasia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ataxia-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Alport syndrome, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Alport syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Alstrom syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Alstrom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperinsulinism-hyperammonemia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperinsulinism-hyperammonemia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lynch syndrome II Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome II phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 17 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lethal multiple pterygium syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lethal multiple pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
MORM syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the MORM syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Upshaw-Schulman syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Upshaw-Schulman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hereditary cancer-predisposing syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Usher syndrome, type 1C Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Usher syndrome, type 1F Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Martsolf syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Martsolf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Usher syndrome, type 1D Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Usher syndrome, type 1J Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1J phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Chromosome 2q32-q33 deletion syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Chromosome 2q32-q33 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Blepharophimosis-ptosis-intellectual disability syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Blepharophimosis-ptosis-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Borrone Di Rocco Crovato syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Borrone Di Rocco Crovato syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hurler syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hurler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Angelman syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Angelman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lig4 syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lig4 syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mitochondrial DNA depletion syndrome 4B, MNGIE type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 4B, MNGIE type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rubinstein-Taybi syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Rubinstein-Taybi syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hajdu-Cheney syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hajdu-Cheney syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperferritinemia cataract syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperferritinemia cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Temtamy preaxial brachydactyly syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Temtamy preaxial brachydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mitochondrial DNA depletion syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperimmunoglobulin E syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperimmunoglobulin E syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bannayan-Riley-Ruvalcaba syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bannayan-Riley-Ruvalcaba syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Chudley-McCullough syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Chudley-McCullough syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Poretti-boltshauser syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Poretti-boltshauser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bosch-boonstra-schaaf optic atrophy syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bosch-boonstra-schaaf optic atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Frank Ter Haar syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Frank Ter Haar syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Androgen resistance syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Androgen resistance syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypoparathyroidism retardation dysmorphism syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypoparathyroidism retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Holt-Oram syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Holt-Oram syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Duane syndrome type 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Duane syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Young Simpson syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Young Simpson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Frasier syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Frasier syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
C-like syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the C-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meier-Gorlin syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meier-Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pili torti-deafness syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pili torti-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gorlin syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Marshall syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Marshall syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Usher syndrome, type 2C Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Usher syndrome, type 2D Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Carpenter syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Carpenter syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bernard-Soulier syndrome, type A2, autosomal dominant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bernard-Soulier syndrome, type A2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Duane-radial ray syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Duane-radial ray syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 19 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
22q133 deletion syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the 22q133 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cutis laxa-corneal clouding-oligophrenia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cutis laxa-corneal clouding-oligophrenia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Craniofacial anomalies and anterior segment dysgenesis syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 14 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
TNF receptor-associated periodic fever syndrome (TRAPS) Gene Set From ClinVar Gene-Phenotype Associations genes associated with the TNF receptor-associated periodic fever syndrome (TRAPS) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Waardenburg syndrome type 2A Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Waardenburg syndrome type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Steel syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Steel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Chromosome 1q43-q44 deletion syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Chromosome 1q43-q44 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Roberts-SC phocomelia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Roberts-SC phocomelia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bloom syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bloom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
McLeod neuroacanthocytosis syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the McLeod neuroacanthocytosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebrooculofacioskeletal syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebrooculofacioskeletal syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebrooculofacioskeletal syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebrooculofacioskeletal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nicolaides-Baraitser syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nicolaides-Baraitser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nager syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nager syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Chédiak-Higashi syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Chédiak-Higashi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kindler's syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kindler's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Carnevale syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Carnevale syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kenny syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kenny syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Episodic pain syndrome, familial, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Episodic pain syndrome, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rienhoff syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Rienhoff syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Usher syndrome, type 2A Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Weaver syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Weaver syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lynch syndrome I Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ectodermal dysplasia/short stature syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia/short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Siderius X-linked mental retardation syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Siderius X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lymphoproliferative syndrome, ebv-associated, autosomal, 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lymphoproliferative syndrome, ebv-associated, autosomal, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kohlschutter's syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kohlschutter's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
X-linked mental retardation with marfanoid habitus syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation with marfanoid habitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebro-oculo-facio-skeletal syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebro-oculo-facio-skeletal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypotrichosis-lymphedema-telangiectasia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypotrichosis-lymphedema-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
LEOPARD syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the LEOPARD syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hermansky-Pudlak syndrome 9 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hermansky-Pudlak syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hermansky-Pudlak syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hermansky-Pudlak syndrome 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hermansky-Pudlak syndrome 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hermansky-Pudlak syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Treacher collins syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Treacher collins syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Wiskott-Aldrich syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Wiskott-Aldrich syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Episodic pain syndrome, familial, 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Episodic pain syndrome, familial, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyper-IgE syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyper-IgE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Tourette Syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tourette Syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Macrocephaly, macrosomia, facial dysmorphism syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Macrocephaly, macrosomia, facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bartter syndrome antenatal type 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome antenatal type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bartter syndrome antenatal type 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome antenatal type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gamstorp-Wohlfart syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gamstorp-Wohlfart syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Turcot syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Long QT syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Long QT syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Long QT syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Sick sinus syndrome 2, autosomal dominant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Sick sinus syndrome 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyaline fibromatosis syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyaline fibromatosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rigidity and multifocal seizure syndrome, lethal neonatal Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Alopecia, neurologic defects, and endocrinopathy syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Weill-Marchesani-like syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Weill-Marchesani-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Netherton syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Netherton syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bartter syndrome, type 4b Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome, type 4b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Feingold syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Feingold syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Knuckle pads, deafness AND leukonychia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Knuckle pads, deafness AND leukonychia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Waardenburg syndrome type 4B Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Waardenburg syndrome type 4B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Usher syndrome, type 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Richieri Costa Pereira syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Richieri Costa Pereira syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autoimmune lymphoproliferative syndrome, type 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autoimmune lymphoproliferative syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bartter syndrome type 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bartter syndrome type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myasthenic syndrome, congenital, fast-channel Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, fast-channel phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Wilson-Turner X-linked mental retardation syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Wilson-Turner X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Costello syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Costello syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ochoa syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ochoa syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bruck syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bruck syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bruck syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bruck syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Achalasia-alacrima syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Achalasia-alacrima syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cryptophthalmos syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cryptophthalmos syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nijmegen breakage syndrome-like disorder Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nijmegen breakage syndrome-like disorder phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Brugada syndrome 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Brugada syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Brugada syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Brugada syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Brugada syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ovarian hyperstimulation syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ovarian hyperstimulation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Otofaciocervical syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Otofaciocervical syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kaufman oculocerebrofacial syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kaufman oculocerebrofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Stickler syndrome, type 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Stickler syndrome, type 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Stickler syndrome, type 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Branchiooculofacial syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Branchiooculofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Karak syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Karak syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Long QT syndrome 12 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Long QT syndrome 13 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Long QT syndrome 10 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hermansky Pudlak syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hermansky Pudlak syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Tarsal carpal coalition syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tarsal carpal coalition syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Jankovic Rivera syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Jankovic Rivera syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nakajo syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nakajo syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Chromosome Xq28 deletion syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Chromosome Xq28 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Fanconi-Bickel syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Fanconi-Bickel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
short QT syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the short QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Smith-Lemli-Opitz syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Smith-Lemli-Opitz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Von Hippel-Lindau syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Von Hippel-Lindau syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 10 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 13 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 14 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 16 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Usher syndrome, type 1B Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Usher syndrome, type 1G Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1G phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos syndrome progeroid type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome progeroid type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Larsen syndrome, dominant type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Larsen syndrome, dominant type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos syndrome, musculocontractural type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, musculocontractural type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Temtamy syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Temtamy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Birk Barel mental retardation dysmorphism syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Birk Barel mental retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Alport syndrome, X-linked recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Alport syndrome, X-linked recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperphosphatasia with mental retardation syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperphosphatasia with mental retardation syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperphosphatasia with mental retardation syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperphosphatasia with mental retardation syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperphosphatasia with mental retardation syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Adenomatous polyposis coli:Gardner syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Adenomatous polyposis coli:Gardner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Jervell and Lange-Nielsen syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Jervell and Lange-Nielsen syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lethal congenital contracture syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contracture syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Leprechaunism syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Leprechaunism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Simpson-Golabi-Behmel syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Simpson-Golabi-Behmel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
XFE progeroid syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the XFE progeroid syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meckel syndrome type 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meckel syndrome type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meckel syndrome type 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meckel syndrome type 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meckel syndrome type 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Leigh syndrome due to mitochondrial complex I deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Dysequilibrium syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Dysequilibrium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atypical hemolytic-uremic syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atypical hemolytic-uremic syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atypical hemolytic-uremic syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atypical hemolytic-uremic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Johanson-Blizzard syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Johanson-Blizzard syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
GRACILE syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the GRACILE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
X-linked lymphoproliferative syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the X-linked lymphoproliferative syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kowarski syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kowarski syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
ADULT syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the ADULT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meckel-Gruber syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meckel-Gruber syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
X-linked lymphoproliferative syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the X-linked lymphoproliferative syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Neutrophil immunodeficiency syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Neutrophil immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Coffin-Lowry syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Coffin-Lowry syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Auriculocondylar syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Auriculocondylar syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Auriculocondylar syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos syndrome, hydroxylysine-deficient Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, hydroxylysine-deficient phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pierson syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pierson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pfeiffer syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pfeiffer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Loeys-Dietz syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Tricho-dento-osseous syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tricho-dento-osseous syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mowat-Wilson syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mowat-Wilson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nephrotic syndrome, type 10 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Perrault syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Perrault syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Jensen syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Jensen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Werner syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Werner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Aarskog syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Aarskog syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Enamel-renal syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Enamel-renal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 21 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 20 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 22 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Multiple synostoses syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Multiple synostoses syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Popliteal pterygium syndrome lethal type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Popliteal pterygium syndrome lethal type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Keutel syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Keutel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pitt-Hopkins syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pitt-Hopkins syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Segawa syndrome, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Segawa syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Multiple pterygium syndrome Escobar type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Multiple pterygium syndrome Escobar type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pitt-Hopkins-like syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pitt-Hopkins-like syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pitt-Hopkins-like syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pitt-Hopkins-like syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lynch syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital short bowel syndrome, X-linked Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital short bowel syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
C syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the C syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Klippel-Feil syndrome 2, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Klippel-Feil syndrome 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Stiff skin syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Stiff skin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lenz microphthalmia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lenz microphthalmia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive hypohidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Marshall/Stickler syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Marshall/Stickler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Schwartz Jampel syndrome type 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Schwartz Jampel syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Grebe syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Grebe syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Saethre-Chotzen syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Saethre-Chotzen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myasthenic syndrome, slow-channel congenital Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, slow-channel congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Floating-Harbor syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Floating-Harbor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Warburg micro syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Warburg micro syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Warburg micro syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Warburg micro syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Warburg micro syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Warburg micro syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V Gene Set From ClinVar Gene-Phenotype Associations genes associated with the AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hermansky-Pudlak syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Osler hemorrhagic telangiectasia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Osler hemorrhagic telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene Set From 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.
Wieacker syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Wieacker syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kabuki make-up syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kabuki make-up syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cohen syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cohen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Oligodontia-colorectal cancer syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Oligodontia-colorectal cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Filippi syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Filippi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lethal congenital contractural syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contractural syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Primrose syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Primrose syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Perrault syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Marshall-Smith syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Marshall-Smith syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Loeys-Dietz syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Brittle cornea syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Brittle cornea syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rotor syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Rotor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Oral-facial-digital syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Oral-facial-digital syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Acrocallosal syndrome, Schinzel type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Acrocallosal syndrome, Schinzel type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gray platelet syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gray platelet syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mast syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mast syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Amish infantile epilepsy syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Amish infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meacham syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meacham syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Stormorken syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Stormorken syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Opitz-Frias syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Opitz-Frias syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cardio-facio-cutaneous syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cardio-facio-cutaneous syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mitochondrial DNA depletion syndrome 11 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kallmann syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kallmann syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kallmann syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kallmann syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kallmann syndrome 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Yunis Varon syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Yunis Varon syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cowden syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cowden syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mulibrey nanism syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mulibrey nanism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ohdo syndrome, X-linked Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ohdo syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nephrotic syndrome, idiopathic, steroid-resistant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, idiopathic, steroid-resistant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Townes-Brocks-branchiootorenal-like syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Townes-Brocks-branchiootorenal-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
SeSAME syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the SeSAME syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Odontotrichomelic syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Odontotrichomelic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrioventricular septal defect, partial, with heterotaxy syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrioventricular septal defect, partial, with heterotaxy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meckel syndrome, type 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome, type 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Infantile liver failure syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Infantile liver failure syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Infantile liver failure syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Infantile liver failure syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lowe syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lowe syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos syndrome, type 7B Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, type 7B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos syndrome, musculocontractural type 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, musculocontractural type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Multiple congenital anomalies-hypotonia-seizures syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rett syndrome, congenital variant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Rett syndrome, congenital variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Van Maldergem syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Van Maldergem syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Robinow syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Robinow syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bone marrow failure syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bone marrow failure syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Orofaciodigital syndrome 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Orofaciodigital syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Orofaciodigital syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Orofaciodigital syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Distichiasis-lymphedema syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Distichiasis-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Townes syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Townes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Neu-Laxova syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Neu-Laxova syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Winchester syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Winchester syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Unverricht-Lundborg syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Unverricht-Lundborg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Verheij syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Verheij syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rapp-Hodgkin ectodermal dysplasia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Rapp-Hodgkin ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Allan-Herndon-Dudley syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Allan-Herndon-Dudley syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Advanced sleep phase syndrome, familial, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Advanced sleep phase syndrome, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Sick sinus syndrome 1, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Sick sinus syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Arterial tortuosity syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Arterial tortuosity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Juvenile polyposis syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Juvenile polyposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Papillon-Lefèvre syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Papillon-Lefèvre syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Brown-vialetto-van laere syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Brown-vialetto-van laere syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly, epilepsy, and diabetes syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, epilepsy, and diabetes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Peters plus syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Peters plus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ulnar-mammary syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ulnar-mammary syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Insulin-dependent diabetes mellitus secretory diarrhea syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Insulin-dependent diabetes mellitus secretory diarrhea syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Zunich neuroectodermal syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Beckwith-Wiedemann syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Beckwith-Wiedemann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Van Maldergem Wetzburger Verloes syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Van Maldergem Wetzburger Verloes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Sotos' syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Sotos' syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Dyggve-Melchior-Clausen syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Dyggve-Melchior-Clausen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Baraitser-Winter Syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Baraitser-Winter Syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Three M syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Three M syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Howel-Evans syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Howel-Evans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Senior-Loken syndrome 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Senior-Loken syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Senior-Loken syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Senior-Loken syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Senior-Loken syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Senior-Loken syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myasthenic syndrome, congenital, with tubular aggregates 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with tubular aggregates 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rhabdoid tumor predisposition syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Rhabdoid tumor predisposition syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Finnish congenital nephrotic syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Finnish congenital nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Tatton-Brown-rahman syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tatton-Brown-rahman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
COACH syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the COACH syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Short rib polydactyly syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Short rib polydactyly syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Short rib polydactyly syndrome 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Short rib polydactyly syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Enhanced s-cone syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Enhanced s-cone syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
X-linked hydrocephalus syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the X-linked hydrocephalus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Acquired long QT syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Acquired long QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Van der Woude syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Van der Woude syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cornelia de Lange syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cornelia de Lange syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Sudden infant death syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Sudden infant death syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Dursun syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Dursun syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Carpenter syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Carpenter syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Li-Fraumeni syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Li-Fraumeni syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Haim-Munk syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Haim-Munk syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Knobloch syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Knobloch syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Carbohydrate-deficient glycoprotein syndrome type I Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Carbohydrate-deficient glycoprotein syndrome type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Advanced sleep phase syndrome, familial Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Advanced sleep phase syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypoplastic enamel-onycholysis-hypohidrosis syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypoplastic enamel-onycholysis-hypohidrosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 9 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 8 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Jarcho-Levin syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Jarcho-Levin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cornelia de Lange syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cornelia de Lange syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cornelia de Lange syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cornelia de Lange syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cornelia de Lange syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cornelia de Lange syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive Dejerine-Sottas syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive Dejerine-Sottas syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kabuki syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kabuki syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hay-Wells syndrome of ectodermal dysplasia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hay-Wells syndrome of ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Reynolds syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Reynolds syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Glut1 deficiency syndrome 1, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Glut1 deficiency syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 12/15, digenic Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 12/15, digenic phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Serkal syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Serkal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Marinesco-Sjögren syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Marinesco-Sjögren syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Seckel syndrome 8 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Seckel syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Seckel syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Seckel syndrome 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Neu-laxova syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Neu-laxova syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Urofacial syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Urofacial syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gordon's syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gordon's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Arts syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Arts syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Noonan syndrome 8 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Noonan syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Noonan syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Noonan syndrome 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Noonan syndrome 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Noonan syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Noonan syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
McKusick Kaufman syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the McKusick Kaufman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autoimmune polyglandular syndrome type 1, autosomal dominant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autoimmune polyglandular syndrome type 1, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rubinstein-Taybi syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Rubinstein-Taybi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nephrotic syndrome, type 5, with or without ocular abnormalities Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 5, with or without ocular abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
FG syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the FG syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Loeys-Dietz syndrome, type 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Stickler syndrome type 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Polyglandular autoimmune syndrome, type 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Polyglandular autoimmune syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bernard-Soulier syndrome, type A1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bernard-Soulier syndrome, type A1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Arthrogryposis renal dysfunction cholestasis syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Arthrogryposis renal dysfunction cholestasis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
EEM syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the EEM syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cardiofaciocutaneous syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cardiofaciocutaneous syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
TARP syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the TARP syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I Gene Set From ClinVar Gene-Phenotype Associations genes associated with the AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Drash syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Drash syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly, hiatal hernia and nephrotic syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, hiatal hernia and nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pallister-Hall syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pallister-Hall syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Radial aplasia-thrombocytopenia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Radial aplasia-thrombocytopenia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Griscelli syndrome type 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Griscelli syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Griscelli syndrome type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Griscelli syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Caudal regression syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Caudal regression syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Catel Manzke syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Catel Manzke syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Trichohepatoenteric syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Trichohepatoenteric syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cockayne syndrome type A Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cockayne syndrome type A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Warsaw breakage syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Warsaw breakage syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 10 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 13 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 12 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 15 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 17 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 16 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Popliteal pterygium syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Popliteal pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
SHORT syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the SHORT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Jervell and Lange-Nielsen syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Jervell and Lange-Nielsen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bainbridge-Ropers syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bainbridge-Ropers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Orofaciodigital syndrome xiv Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Orofaciodigital syndrome xiv phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Leigh syndrome, French Canadian type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome, French Canadian type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME Gene Set From ClinVar Gene-Phenotype Associations genes associated with the XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bent bone dysplasia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bent bone dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pachydermoperiostosis syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pachydermoperiostosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Crouzon syndrome with acanthosis nigricans Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Crouzon syndrome with acanthosis nigricans phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Leigh syndrome due to mitochondrial complex II deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nance-Horan syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nance-Horan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Multiple mitochondrial dysfunctions syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Multiple mitochondrial dysfunctions syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Multiple mitochondrial dysfunctions syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Multiple mitochondrial dysfunctions syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Saethre-Chotzen syndrome with eyelid anomalies Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Saethre-Chotzen syndrome with eyelid anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gerstmann-Straussler-Scheinker syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gerstmann-Straussler-Scheinker syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Curry-Hall syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Curry-Hall syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial multiple polyposis syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial multiple polyposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kartagener syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kartagener syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cutis Gyrata syndrome of Beare and Stevenson Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cutis Gyrata syndrome of Beare and Stevenson phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Donnai Barrow syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Donnai Barrow syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Klippel-Feil syndrome 1, autosomal dominant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Klippel-Feil syndrome 1, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Dubin-Johnson syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Dubin-Johnson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Loeys-Dietz syndrome type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Riddle syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Riddle syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cold-induced sweating syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cold-induced sweating syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Oto-palato-digital syndrome, type I Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Oto-palato-digital syndrome, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cockayne syndrome, type B Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cockayne syndrome, type B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Wagner syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Wagner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR Gene Set From ClinVar Gene-Phenotype Associations genes associated with the STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Schinzel-Giedion syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Schinzel-Giedion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bowen-Conradi syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bowen-Conradi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
ATR-X syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the ATR-X syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gardner syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gardner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Baller-Gerold syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Baller-Gerold syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypocalcemia, autosomal dominant 1, with bartter syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypocalcemia, autosomal dominant 1, with bartter syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spondylocarpotarsal synostosis syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spondylocarpotarsal synostosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
LONG QT SYNDROME 14 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the LONG QT SYNDROME 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Renal coloboma syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Renal coloboma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Menkes kinky-hair syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Menkes kinky-hair syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Legius syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Legius syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 9 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia Gene Set From 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.
Andermann syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Andermann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Stickler syndrome, type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Michels syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Michels syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Stocco dos Santos syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Stocco dos Santos syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Sotos syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Sotos syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lenz-Majewski hyperostosis syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lenz-Majewski hyperostosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Axenfeld-Rieger syndrome type 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Axenfeld-Rieger syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Axenfeld-Rieger syndrome type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Axenfeld-Rieger syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lethal congenital contracture syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contracture syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mitchell-Riley syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mitchell-Riley syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Tietz syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tietz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Prune belly syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Prune belly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Alagille syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Alagille syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Alagille syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Alagille syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mosaic variegated aneuploidy syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mosaic variegated aneuploidy syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Christianson syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Christianson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hereditary cancer-predisposing syndrome:Erythrocytosis, familial, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Erythrocytosis, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Histiocytosis-lymphadenopathy plus syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Histiocytosis-lymphadenopathy plus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Skin fragility woolly hair syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Skin fragility woolly hair syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Loeys-Dietz syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cortical dysplasia-focal epilepsy syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cortical dysplasia-focal epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spondylocheirodysplasia, Ehlers-Danlos syndrome-like phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital long QT syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital long QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Three M syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Three M syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Symphalangism-brachydactyly syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Symphalangism-brachydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rhabdoid tumor predisposition syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Rhabdoid tumor predisposition syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Treacher collins syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Treacher collins syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Stickler syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Trichorhinophalangeal syndrome type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Trichorhinophalangeal syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Enlarged vestibular aqueduct syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Enlarged vestibular aqueduct syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Temple-Baraitser syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Temple-Baraitser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Boucher Neuhauser syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Boucher Neuhauser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Stuve-Wiedemann syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Stuve-Wiedemann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Polyendocrine-polyneuropathy syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Polyendocrine-polyneuropathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Adams-Oliver syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Adams-Oliver syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Adams-Oliver syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Adams-Oliver syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Adams-Oliver syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Adams-Oliver syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Adams-Oliver syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Adams-Oliver syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autoimmune lymphoproliferative syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autoimmune lymphoproliferative syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Glucose transporter type 1 deficiency syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Glucose transporter type 1 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Perry syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Perry syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Freeman-Sheldon syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Freeman-Sheldon syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Adams-Oliver syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Adams-Oliver syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos syndrome, type 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos syndrome, type 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos syndrome, type 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Noonan's syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Noonan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Alacrima, achalasia, and mental retardation syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Alacrima, achalasia, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) Gene Set From ClinVar Gene-Phenotype Associations genes associated with the THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly-capillary malformation syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly-capillary malformation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Roussy-Lévy syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Roussy-Lévy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
atypical hemolytic-uremic syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the atypical hemolytic-uremic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mitochondrial DNA-depletion syndrome 3, hepatocerebral Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA-depletion syndrome 3, hepatocerebral phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nephrotic syndrome, type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Renpenning syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Renpenning syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pendred's syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pendred's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
FG syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the FG syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cocoon syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cocoon syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hennekam lymphangiectasia-lymphedema syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hennekam lymphangiectasia-lymphedema syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kallmann syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bare lymphocyte syndrome type 2, complementation group E Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bare lymphocyte syndrome type 2, complementation group E phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bare lymphocyte syndrome type 2, complementation group A Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bare lymphocyte syndrome type 2, complementation group A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Borjeson-Forssman-Lehmann syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Borjeson-Forssman-Lehmann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rothmund-Thomson syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Rothmund-Thomson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meckel syndrome, type 11 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome, type 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Activated PI3K-delta syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Activated PI3K-delta syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Snyder Robinson syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Snyder Robinson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Weill-Marchesani syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Weill-Marchesani syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Reifenstein syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Reifenstein syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rapadilino syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Rapadilino syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Tumor predisposition syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tumor predisposition syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 9/15, digenic Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 9/15, digenic phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency-centromeric instability-facial anomalies syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Scalp ear nipple syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Scalp ear nipple syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Majeed syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Majeed syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cutaneous telangiectasia and cancer syndrome, familial Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cutaneous telangiectasia and cancer syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Aicardi-goutieres syndrome 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Aicardi-goutieres syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Aicardi-goutieres syndrome 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Aicardi-goutieres syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Dejerine-Sottas syndrome, autosomal dominant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Dejerine-Sottas syndrome, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Multiple congenital anomalies-hypotonia-seizures syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Multiple congenital anomalies-hypotonia-seizures syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Marden-Walker syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Marden-Walker syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 8 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Miller syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Miller syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pineal hyperplasia AND diabetes mellitus syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pineal hyperplasia AND diabetes mellitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Fuhrmann syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Fuhrmann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Oto-palato-digital syndrome, type II Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Oto-palato-digital syndrome, type II phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ectodermal dysplasia skin fragility syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia skin fragility syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Prader-Willi-like syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Prader-Willi-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Incontinentia pigmenti syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Incontinentia pigmenti syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ichthyosis prematurity syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ichthyosis prematurity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Yakut short stature syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Yakut short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Shprintzen syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Shprintzen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Wolfram-like syndrome, autosomal dominant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Wolfram-like syndrome, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Brugada syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Neurofibromatosis-Noonan syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Neurofibromatosis-Noonan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Crouzon syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Crouzon syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Brown-Vialetto-Van laere syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Brown-Vialetto-Van laere syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Abruzzo Erickson syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Abruzzo Erickson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hand foot uterus syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hand foot uterus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nail-patella syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nail-patella syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Camptodactyly, tall stature, and hearing loss syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Camptodactyly, tall stature, and hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Robinow syndrome, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Robinow syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital myasthenic syndrome, acetazolamide-responsive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital myasthenic syndrome, acetazolamide-responsive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Loeys-Dietz syndrome, type 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Smith-Magenis syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Smith-Magenis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Branchiootic syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Branchiootic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Usher syndrome, type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ectodermal dysplasia-syndactyly syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia-syndactyly syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cardiofaciocutaneous syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cardiofaciocutaneous syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B Gene Set From ClinVar Gene-Phenotype Associations genes associated with the BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital muscular hypertrophy-cerebral syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular hypertrophy-cerebral syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Aicardi Goutieres syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Aicardi Goutieres syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Aicardi Goutieres syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Aicardi Goutieres syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Aicardi Goutieres syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Aicardi Goutieres syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Aicardi Goutieres syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Aicardi Goutieres syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Aicardi Goutieres syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Aicardi Goutieres syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autoimmune lymphoproliferative syndrome, type 1a Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autoimmune lymphoproliferative syndrome, type 1a phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Warburg micro syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Warburg micro syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Long QT syndrome 11 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
FG syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the FG syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Peutz-Jeghers syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Peutz-Jeghers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Child syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Child syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bernard-Soulier syndrome type C Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bernard-Soulier syndrome type C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Marden Walker like syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Marden Walker like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hidrotic ectodermal dysplasia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, iris coloboma, and comedogenic acne syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Orofacial-digital syndrome IV Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Orofacial-digital syndrome IV phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Chromosome 9q deletion syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Chromosome 9q deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hereditary cancer-predisposing syndrome:Hereditary diffuse gastric cancer Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Hereditary diffuse gastric cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos syndrome, type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meier-Gorlin syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meier-Gorlin syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meier-Gorlin syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meier-Gorlin syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meier-Gorlin syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meier-Gorlin syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meier-Gorlin syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meier-Gorlin syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Peeling skin syndrome, acral type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Peeling skin syndrome, acral type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Shprintzen-Goldberg syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Shprintzen-Goldberg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pena-Shokeir syndrome type I Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pena-Shokeir syndrome type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Enhanced S-Cone Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Enhanced S-Cone Syndrome from the curated CTD Gene-Disease Associations dataset.
Lymphedema distichiasis syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Lymphedema distichiasis syndrome from the curated CTD Gene-Disease Associations dataset.
Muir-Torre Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Muir-Torre Syndrome from the curated CTD Gene-Disease Associations dataset.
Mohr-Tranebjaerg syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mohr-Tranebjaerg syndrome from the curated CTD Gene-Disease Associations dataset.
MASS syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MASS syndrome from the curated CTD Gene-Disease Associations dataset.
Brugada Syndrome 7 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Brugada Syndrome 7 from the curated CTD Gene-Disease Associations dataset.
Kenny Caffey syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Kenny Caffey syndrome from the curated CTD Gene-Disease Associations dataset.
Riddle Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Riddle Syndrome from the curated CTD Gene-Disease Associations dataset.
Siderius X-linked mental retardation syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Siderius X-linked mental retardation syndrome from the curated CTD Gene-Disease Associations dataset.
Sturge-Weber Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Sturge-Weber Syndrome from the curated CTD Gene-Disease Associations dataset.
TRICHODENTOOSSEOUS SYNDROME Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease TRICHODENTOOSSEOUS SYNDROME from the curated CTD Gene-Disease Associations dataset.
Brugada Syndrome 8 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Brugada Syndrome 8 from the curated CTD Gene-Disease Associations dataset.
Char syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Char syndrome from the curated CTD Gene-Disease Associations dataset.
Shwachman syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Shwachman syndrome from the curated CTD Gene-Disease Associations dataset.
Atypical Hemolytic Uremic Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Atypical Hemolytic Uremic Syndrome from the curated CTD Gene-Disease Associations dataset.
MAST Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MAST Syndrome from the curated CTD Gene-Disease Associations dataset.
Acute Coronary Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Acute Coronary Syndrome from the curated CTD Gene-Disease Associations dataset.
Sjogren-Larsson Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Sjogren-Larsson Syndrome from the curated CTD Gene-Disease Associations dataset.
MEHMO syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MEHMO syndrome from the curated CTD Gene-Disease Associations dataset.
Glaucoma-Related Pigment Dispersion Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Glaucoma-Related Pigment Dispersion Syndrome from the curated CTD Gene-Disease Associations dataset.
Lateral Medullary Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Lateral Medullary Syndrome from the curated CTD Gene-Disease Associations dataset.
FORSYTHE-WAKELING SYNDROME Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease FORSYTHE-WAKELING SYNDROME from the curated CTD Gene-Disease Associations dataset.
Wolcott-Rallison syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Wolcott-Rallison syndrome from the curated CTD Gene-Disease Associations dataset.
Partington X-linked mental retardation syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Partington X-linked mental retardation syndrome from the curated CTD Gene-Disease Associations dataset.
Cold-Induced Sweating Syndrome 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cold-Induced Sweating Syndrome 1 from the curated CTD Gene-Disease Associations dataset.
Persistent Mullerian duct syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Persistent Mullerian duct syndrome from the curated CTD Gene-Disease Associations dataset.
Lacrimoauriculodentodigital syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Lacrimoauriculodentodigital syndrome from the curated CTD Gene-Disease Associations dataset.
Desbuquois syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Desbuquois syndrome from the curated CTD Gene-Disease Associations dataset.
ABCD syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease ABCD syndrome from the curated CTD Gene-Disease Associations dataset.
USHER SYNDROME, TYPE IJ Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease USHER SYNDROME, TYPE IJ from the curated CTD Gene-Disease Associations dataset.
Nijmegen Breakage Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Nijmegen Breakage Syndrome from the curated CTD Gene-Disease Associations dataset.

Harmonizome 3.0

Hunter'S Syndrome, Mild Form Gene Set

Hunter'S Syndrome, Severe Form Gene Set

Maroteaux-Lamy Syndrome, Mild Form Gene Set

Idiopathic Infantile Hypercalcemia - Mild Form Gene Set

MPS II - Hunter syndrome Gene Set

MPS II - Hunter syndrome Gene Set

Bolton Hunter-cholecystokinin nonapeptide Gene Set

ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE Gene Set

acromesomelic dysplasia, hunter-thompson type Gene Set

Acromesomelic Dysplasia Hunter-Thompson Type Gene Set

Acromesomelic dysplasia, Hunter-Thompson type Gene Set

Hunter's organ Gene Set

Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form Gene Set

Vohwinkel Syndrome, Variant Form Gene Set

Ehlers-Danlos syndrome, cardiac valvular form Gene Set

Ehlers-Danlos syndrome, progeroid form Gene Set

hyper-igm syndrome can form oligomers and trigger cd40-mediated signals Gene Set

ehlers-danlos syndrome, cardiac valvular form Gene Set

juvenile polyposis syndrome, infantile form Gene Set

Vohwinkel Syndrome, Variant Form Gene Set

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive Gene Set

mild ehlers-danlos syndrome type iv Gene Set

Ahdc1-Related Intellectual Disability, Obstructive Sleep Apnea, Mild Dysmorphism Syndrome Gene Set

Bjornstad Syndrome With Mild Mitochondrial Complex Iii Deficiency Gene Set

Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene Set

Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene Set

AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Gene Set

Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Gene Set

Congenital myotonia, autosomal dominant form Gene Set

Osteogenesis imperfecta with normal sclerae, dominant form Gene Set

Idiopathic fibrosing alveolitis, chronic form Gene Set

NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM Gene Set

Congenital myotonia, autosomal recessive form Gene Set

NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM Gene Set

GLYCOGEN STORAGE DISEASE II, ADULT FORM Gene Set

Ichthyosiform erythroderma, Brocq congenital, nonbullous form Gene Set

Hepatorenal form of glycogen storage disease Gene Set

form agnosia Gene Set

1,6-Fructose Diphosphate (Linear Form) Gene Set

immunologically hyper-reactive form of onchocerciasis (sowda) Gene Set

form Gene Set

y-form dna binding Gene Set

latanoprost (free acid form) Gene Set

misoprostol (free acid form) Gene Set

butaprost (free acid form) Gene Set

bimatoprost (free acid form) Gene Set

abnormal form of the vertebral bodies Gene Set

PLUNC, long form Gene Set

Phenylalanine-4-hydroxylase, tetrameric form Gene Set

failure to form blastocele Gene Set

failure to form egg cylinders Gene Set

polyglucosan body disease, adult form Gene Set

organism form Gene Set

plant form Gene Set

organism form Gene Set

plant form Gene Set

procyclic form Gene Set

bloodstream form Gene Set

metacyclic form Gene Set

fungus form Gene Set

trypanosomoid form Gene Set

organism form Gene Set

plant form Gene Set

sporozoan form Gene Set

protozoan form Gene Set

Hepatic Form Of Wilson Disease Gene Set

Chronic Active Ebv Infection Of T-And Nk-Cell Type, Systemic Form Gene Set

Zoonotic Form Of Cutaneous Leishmaniasis Gene Set

Gsd Iv, Neumuscular Form Gene Set

Polyglucosan Body Disease, Adult Form Gene Set

Acropectorovertebral Dysplasia, F-Form Gene Set

Adult Form Of Celiac Disease Gene Set

Scapuloperoneal Form Of Spinal Muscular Atrophy Gene Set

Abnormal Form Of The Vertebral Bodies Gene Set

Impaired Ability To Form Peer Relationships Gene Set

peptidyl-histidine methylation, to form tele-methylhistidine Gene Set

Y-form DNA binding Gene Set

Y-form DNA binding Gene Set

Form agnosia Gene Set