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Progressive Cardiomyopathic Lentiginosis Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Cardiomyopathic Lentiginosis Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) Gene SetFrom 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 12 (cardiomyopathic type) Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial dna depletion syndrome 12 (cardiomyopathic type) phenotype from the curated OMIM Gene-Disease Associations dataset. |
Lentiginosis Profusa Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lentiginosis Profusa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
cardiomyopathic Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term cardiomyopathic in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
frontotemporal dementia; movement disorders; progressive supranuclear palsy; supranuclear palsy, progressive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease frontotemporal dementia; movement disorders; progressive supranuclear palsy; supranuclear palsy, progressive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
basal ganglia diseases; frontotemporal dementia; progressive supranuclear palsy; supranuclear palsy, progressive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease basal ganglia diseases; frontotemporal dementia; progressive supranuclear palsy; supranuclear palsy, progressive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic progressive external ophthalmoplegia; ophthalmoplegia, chronic progressive external; pof - premature ovarian failure; primary ovarian insufficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic progressive external ophthalmoplegia; ophthalmoplegia, chronic progressive external; pof - premature ovarian failure; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) Gene SetFrom OMIM Gene-Disease Associations genes associated with the thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) phenotype from the curated OMIM Gene-Disease Associations dataset. |
ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Gene SetFrom OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss phenotype from the curated OMIM Gene-Disease Associations dataset. |
Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy-Like Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy-Like Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive supranuclear palsy-parkinsonism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive supranuclear palsy-parkinsonism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spinal muscular atrophy-progressive myoclonic epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-progressive spastic diplegia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-progressive spastic diplegia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lynch syndrome:Lynch syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Epilepsy, progressive myoclonic 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, progressive myoclonic 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gaze palsy, familial horizontal, with progressive scoliosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gaze palsy, familial horizontal, with progressive scoliosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukoencephalopathy, progressive, with ovarian failure Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leukoencephalopathy, progressive, with ovarian failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Progressive pseudorheumatoid dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Progressive pseudorheumatoid dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, progressive myoclonic 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, progressive myoclonic 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, progressive myoclonic 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, progressive myoclonic 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia infantile with progressive external ophthalmoplegia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia infantile with progressive external ophthalmoplegia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperpigmentation, familial progressive, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperpigmentation, familial progressive, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, progressive myoclonic 4, with or without renal failure Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, progressive myoclonic 4, with or without renal failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Progressive intrahepatic cholestasis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Progressive intrahepatic cholestasis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Progressive familial intrahepatic cholestasis 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Progressive familial intrahepatic cholestasis 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Progressive familial intrahepatic cholestasis 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Progressive familial intrahepatic cholestasis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Progressive familial heart block type 1A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Progressive familial heart block type 1A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Progressive familial heart block type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Progressive familial heart block type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, progressive myoclonic 2b Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, progressive myoclonic 2b phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Progressive familial intrahepatic cholestasis 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Progressive familial intrahepatic cholestasis 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Progressive myoclonus epilepsy with ataxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Progressive myoclonus epilepsy with ataxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Progressive sclerosing poliodystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Progressive sclerosing poliodystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal tubular acidosis with progressive nerve deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis with progressive nerve deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Progressive myositis ossificans Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Progressive myositis ossificans phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Striatal necrosis, bilateral, and progressive polyneuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Striatal necrosis, bilateral, and progressive polyneuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, postnatal progressive, with seizures and brain atrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, postnatal progressive, with seizures and brain atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myoclonic Epilepsies, Progressive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myoclonic Epilepsies, Progressive from the curated CTD Gene-Disease Associations dataset. |
Cataract, Nuclear Progressive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Nuclear Progressive from the curated CTD Gene-Disease Associations dataset. |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Gaze Palsy, Familial Horizontal, with Progressive Scoliosis from the curated CTD Gene-Disease Associations dataset. |
Cholestasis, progressive familial intrahepatic 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cholestasis, progressive familial intrahepatic 1 from the curated CTD Gene-Disease Associations dataset. |
Cholestasis, progressive familial intrahepatic 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cholestasis, progressive familial intrahepatic 2 from the curated CTD Gene-Disease Associations dataset. |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 from the curated CTD Gene-Disease Associations dataset. |
Gliosis, Familial Progressive Subcortical Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Gliosis, Familial Progressive Subcortical from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS from the curated CTD Gene-Disease Associations dataset. |
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY from the curated CTD Gene-Disease Associations dataset. |
HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE from the curated CTD Gene-Disease Associations dataset. |
Osseous Heteroplasia, Progressive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Osseous Heteroplasia, Progressive from the curated CTD Gene-Disease Associations dataset. |
Supranuclear Palsy, Progressive, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Supranuclear Palsy, Progressive, 2 from the curated CTD Gene-Disease Associations dataset. |
Supranuclear Palsy, Progressive, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Supranuclear Palsy, Progressive, 3 from the curated CTD Gene-Disease Associations dataset. |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 from the curated CTD Gene-Disease Associations dataset. |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 from the curated CTD Gene-Disease Associations dataset. |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Progressive Myoclonic, 1b Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Progressive Myoclonic, 1b from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE from the curated CTD Gene-Disease Associations dataset. |
Chorioretinal atrophy, progressive bifocal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Chorioretinal atrophy, progressive bifocal from the curated CTD Gene-Disease Associations dataset. |
Macrothrombocytopenia progressive deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macrothrombocytopenia progressive deafness from the curated CTD Gene-Disease Associations dataset. |
Erythrokeratodermia, Progressive Symmetric Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Erythrokeratodermia, Progressive Symmetric from the curated CTD Gene-Disease Associations dataset. |
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness from the curated CTD Gene-Disease Associations dataset. |
Progressive hearing loss stapes fixation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Progressive hearing loss stapes fixation from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay from the curated CTD Gene-Disease Associations dataset. |
PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA from the curated CTD Gene-Disease Associations dataset. |
Supranuclear Palsy, Progressive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Supranuclear Palsy, Progressive from the curated CTD Gene-Disease Associations dataset. |
Arthropathy, progressive pseudorheumatoid, of childhood Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arthropathy, progressive pseudorheumatoid, of childhood from the curated CTD Gene-Disease Associations dataset. |
Leukoencephalopathy, Progressive Multifocal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leukoencephalopathy, Progressive Multifocal from the curated CTD Gene-Disease Associations dataset. |
Progressive Familial Heart Block, Type Ib Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Progressive Familial Heart Block, Type Ib from the curated CTD Gene-Disease Associations dataset. |
Cholestasis, progressive familial intrahepatic 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cholestasis, progressive familial intrahepatic 3 from the curated CTD Gene-Disease Associations dataset. |
Bulbar Palsy, Progressive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bulbar Palsy, Progressive from the curated CTD Gene-Disease Associations dataset. |
Ophthalmoplegia, Chronic Progressive External Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ophthalmoplegia, Chronic Progressive External from the curated CTD Gene-Disease Associations dataset. |
Nephropathy, Progressive, with Deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nephropathy, Progressive, with Deafness from the curated CTD Gene-Disease Associations dataset. |
Progressive supranuclear palsy atypical Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Progressive supranuclear palsy atypical from the curated CTD Gene-Disease Associations dataset. |
Renal Failure, Progressive, with Hypertension Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Renal Failure, Progressive, with Hypertension from the curated CTD Gene-Disease Associations dataset. |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 from the curated CTD Gene-Disease Associations dataset. |
Supranuclear Palsy, Progressive Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Supranuclear Palsy, Progressive in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
chronic progressive external ophthalmoplegia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease chronic progressive external ophthalmoplegia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
progressive myoclonus epilepsy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease progressive myoclonus epilepsy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
progressive supranuclear palsy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease progressive supranuclear palsy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
progressive supranuclear palsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease progressive supranuclear palsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
progressive bulbar palsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease progressive bulbar palsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
chronic progressive external ophthalmoplegia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease chronic progressive external ophthalmoplegia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
progressive multifocal leukoencephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease progressive multifocal leukoencephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
rapidly progressive glomerulonephritis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease rapidly progressive glomerulonephritis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
progressive muscular atrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease progressive muscular atrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
progressive myoclonus epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease progressive myoclonus epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
slowly progressive als Gene SetFrom GAD Gene-Disease Associations genes associated with the disease slowly progressive als in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial atypical progressive supranuclear palsy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial atypical progressive supranuclear palsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aphasia, primary progressive; dementia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aphasia, primary progressive; dementia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
multiple sclerosis, chronic progressive; multiple sclerosis, relapsing-remitting Gene SetFrom GAD Gene-Disease Associations genes associated with the disease multiple sclerosis, chronic progressive; multiple sclerosis, relapsing-remitting in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; aphasia, primary progressive; dementia; nerve degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; aphasia, primary progressive; dementia; nerve degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
machado-joseph disease; myoclonic epilepsies, progressive; myotonic dystrophy; oligospermia; spinocerebellar ataxias Gene SetFrom GAD Gene-Disease Associations genes associated with the disease machado-joseph disease; myoclonic epilepsies, progressive; myotonic dystrophy; oligospermia; spinocerebellar ataxias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; amyotrophic lateral sclerosis; aphasia, primary progressive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; amyotrophic lateral sclerosis; aphasia, primary progressive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ophthalmoplegia, chronic progressive external Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ophthalmoplegia, chronic progressive external in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
primary progressive aphasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease primary progressive aphasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
progressive supranuclear palsy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease progressive supranuclear palsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; alzheimer's disease; aphasia, primary progressive; dementia; memory disorders; neurodegenerative diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; alzheimer's disease; aphasia, primary progressive; dementia; memory disorders; neurodegenerative diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic progressive chorea; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic progressive chorea; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neurodegenerative diseases; supranuclear palsy, progressive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neurodegenerative diseases; supranuclear palsy, progressive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dominant progressive deafness Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dominant progressive deafness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
supranuclear palsy, progressive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease supranuclear palsy, progressive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer's disease; parkinson's disease; progressive supranuclear palsy; dementia, frontotemporal; multiple system atropy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer's disease; parkinson's disease; progressive supranuclear palsy; dementia, frontotemporal; multiple system atropy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aphasia, primary progressive; heredodegenerative disorders, nervous system Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aphasia, primary progressive; heredodegenerative disorders, nervous system in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
rapidly progressive familial amyotrophic lateral sclerosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease rapidly progressive familial amyotrophic lateral sclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
multiple sclerosis, chronic progressive; multiple sclerosis, relapsing-remitting; psoriasis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease multiple sclerosis, chronic progressive; multiple sclerosis, relapsing-remitting; psoriasis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brain diseases; neurodegenerative diseases; supranuclear palsy, progressive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brain diseases; neurodegenerative diseases; supranuclear palsy, progressive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
progressive av-block and anomalous venous return Gene SetFrom GAD Gene-Disease Associations genes associated with the disease progressive av-block and anomalous venous return in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
progressive external ophthalmoplegia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease progressive external ophthalmoplegia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
multiple sclerosis, chronic progressive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease multiple sclerosis, chronic progressive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
als/amyotrophic lateral sclerosis; progressive muscular atrophy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease als/amyotrophic lateral sclerosis; progressive muscular atrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic progressive chorea; huntington disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic progressive chorea; huntington disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dementia; supranuclear palsy, progressive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dementia; supranuclear palsy, progressive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
progressive renal damage Gene SetFrom GAD Gene-Disease Associations genes associated with the disease progressive renal damage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chromosome inversion; dementia; supranuclear palsy, progressive; tauopathies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome inversion; dementia; supranuclear palsy, progressive; tauopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic progressive chorea; huntington disease; insulin resistance Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic progressive chorea; huntington disease; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic progressive chorea; memory disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic progressive chorea; memory disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
progressive Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term progressive in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Progressive supranuclear palsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Progressive supranuclear palsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
progressive supranuclear palsy Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease progressive supranuclear palsy in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
progressive cataract Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive cataract phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive inability to walk Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive inability to walk phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive hearing impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive congenital scoliosis Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive congenital scoliosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive visual field defects Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive visual field defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
symmetrical progressive peripheral demyelination Gene SetFrom HPO Gene-Disease Associations genes associated with the symmetrical progressive peripheral demyelination phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive spastic paraplegia Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive spastic paraplegia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive cone degeneration Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive cone degeneration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive vitiligo Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive vitiligo phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive neurologic deterioration Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive neurologic deterioration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive spastic quadriplegia Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive spastic quadriplegia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive psychomotor deterioration Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive psychomotor deterioration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive reticulate hyperpigmentation Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive reticulate hyperpigmentation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive fusion 2nd-5th pip joints Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive fusion 2nd-5th pip joints phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive encephalopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive extrapyramidal movement disorder Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive extrapyramidal movement disorder phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive gait ataxia Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive gait ataxia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive inspiratory stridor Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive inspiratory stridor phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive choreoathetosis Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive choreoathetosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive spasticity Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive spasticity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive peripheral neuropathy Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive peripheral neuropathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive sclerosis of skull base Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive sclerosis of skull base phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive clavicular acroosteolysis Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive clavicular acroosteolysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive muscle weakness Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive alopecia Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive alopecia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive distal muscular atrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive distal muscular atrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive truncal ataxia Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive truncal ataxia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
subacute progressive viral hepatitis Gene SetFrom HPO Gene-Disease Associations genes associated with the subacute progressive viral hepatitis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
intellectual disability, progressive Gene SetFrom HPO Gene-Disease Associations genes associated with the intellectual disability, progressive phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive central visual loss Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive central visual loss phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive language deterioration Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive language deterioration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive hyperpigmentation Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive hyperpigmentation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive hypotrichosis Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive hypotrichosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive sensorineural hearing impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive sensorineural hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive pulmonary function impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive pulmonary function impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive forgetfulness Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive forgetfulness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive microcephaly Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive microcephaly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive alveolar ridge hypertropy Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive alveolar ridge hypertropy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive proximal muscle weakness Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive proximal muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive macrocephaly Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive macrocephaly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive external ophthalmoplegia Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive external ophthalmoplegia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive night blindness Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive night blindness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive macular scarring Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive macular scarring phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive ptosis Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive ptosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive calcification of costochondral cartilage Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive calcification of costochondral cartilage phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive cervical vertebral spine fusion Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive cervical vertebral spine fusion phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive conductive hearing impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive conductive hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive distal muscle weakness Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive distal muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
rapidly progressive Gene SetFrom HPO Gene-Disease Associations genes associated with the rapidly progressive phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive leukoencephalopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive leukoencephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive retinal degeneration Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive retinal degeneration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive flexion contractures Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive flexion contractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive visual loss Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive visual loss phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive disorder Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive disorder phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive ophthalmoplegia Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive ophthalmoplegia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive cerebellar ataxia Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive cerebellar ataxia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Multiple Sclerosis, Chronic Progressive Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Multiple Sclerosis, Chronic Progressive phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Myoclonic Epilepsies, Progressive Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Myoclonic Epilepsies, Progressive phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Bulbar Palsy, Progressive Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Bulbar Palsy, Progressive phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Supranuclear Palsy, Progressive Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Supranuclear Palsy, Progressive phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Aphasia, Primary Progressive Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Aphasia, Primary Progressive phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Ophthalmoplegia, Chronic Progressive External Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Ophthalmoplegia, Chronic Progressive External phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Progressive rod-cone degeneration protein Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Progressive rod-cone degeneration protein protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Progressive ankylosis Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Progressive ankylosis protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
progressive muscle weakness Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the progressive muscle weakness phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
progressive hair loss Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the progressive hair loss phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
deafness, x-linked 1, progressive Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, x-linked 1, progressive phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, progressive myoclonic 3, with or without intracellular inclusions Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, progressive myoclonic 3, with or without intracellular inclusions phenotype from the curated OMIM Gene-Disease Associations dataset. |
cholestasis, progressive canalicular Gene SetFrom OMIM Gene-Disease Associations genes associated with the cholestasis, progressive canalicular phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, progressive myoclonic 2b (lafora) Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, progressive myoclonic 2b (lafora) phenotype from the curated OMIM Gene-Disease Associations dataset. |
progressive external ophthalmoplegia, autosomal dominant, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the progressive external ophthalmoplegia, autosomal dominant, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
progressive familial heart block, type ib Gene SetFrom OMIM Gene-Disease Associations genes associated with the progressive familial heart block, type ib phenotype from the curated OMIM Gene-Disease Associations dataset. |
supranuclear palsy, progressive, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the supranuclear palsy, progressive, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
supranuclear palsy, progressive, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the supranuclear palsy, progressive, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly, postnatal progressive, with seizures and brain atrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, postnatal progressive, with seizures and brain atrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset. |
macrothrombocytopenia and progressive sensorineural deafness Gene SetFrom OMIM Gene-Disease Associations genes associated with the macrothrombocytopenia and progressive sensorineural deafness phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinal muscular atrophy with progressive myoclonic epilepsy Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinal muscular atrophy with progressive myoclonic epilepsy phenotype from the curated OMIM Gene-Disease Associations dataset. |
supranuclear palsy, progressive atypical Gene SetFrom OMIM Gene-Disease Associations genes associated with the supranuclear palsy, progressive atypical phenotype from the curated OMIM Gene-Disease Associations dataset. |
migraine, familial hemiplegic, 1, with progressive cerebellar ataxia Gene SetFrom OMIM Gene-Disease Associations genes associated with the migraine, familial hemiplegic, 1, with progressive cerebellar ataxia phenotype from the curated OMIM Gene-Disease Associations dataset. |
supranuclear palsy, progressive Gene SetFrom OMIM Gene-Disease Associations genes associated with the supranuclear palsy, progressive phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperpigmentation, familial progressive, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperpigmentation, familial progressive, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cholestasis, progressive familial intrahepatic 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cholestasis, progressive familial intrahepatic 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cholestasis, progressive familial intrahepatic 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cholestasis, progressive familial intrahepatic 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cholestasis, progressive familial intrahepatic 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cholestasis, progressive familial intrahepatic 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cholestasis, progressive familial intrahepatic 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cholestasis, progressive familial intrahepatic 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
aphasia, primary progressive Gene SetFrom OMIM Gene-Disease Associations genes associated with the aphasia, primary progressive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondyloepiphyseal dysplasia tarda with progressive arthropathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondyloepiphyseal dysplasia tarda with progressive arthropathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, progressive myoclonic 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, progressive myoclonic 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, progressive myoclonic 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, progressive myoclonic 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cone dystrophy, progressive x-linked, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cone dystrophy, progressive x-linked, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
leukoencephalopathy, progressive, with ovarian failure Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukoencephalopathy, progressive, with ovarian failure phenotype from the curated OMIM Gene-Disease Associations dataset. |
osseous heteroplasia, progressive Gene SetFrom OMIM Gene-Disease Associations genes associated with the osseous heteroplasia, progressive phenotype from the curated OMIM Gene-Disease Associations dataset. |
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, progressive myoclonic 4, with or without renal failure Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, progressive myoclonic 4, with or without renal failure phenotype from the curated OMIM Gene-Disease Associations dataset. |
nephropathy, progressive, with deafness Gene SetFrom OMIM Gene-Disease Associations genes associated with the nephropathy, progressive, with deafness phenotype from the curated OMIM Gene-Disease Associations dataset. |
gaze palsy, horizontal, with progressive scoliosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the gaze palsy, horizontal, with progressive scoliosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
progressive external ophthalmoplegia, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the progressive external ophthalmoplegia, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
arthropathy, progressive pseudorheumatoid, of childhood Gene SetFrom OMIM Gene-Disease Associations genes associated with the arthropathy, progressive pseudorheumatoid, of childhood phenotype from the curated OMIM Gene-Disease Associations dataset. |
progressive external ophthalmoplegia with mitochondrial dna deletions 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the progressive external ophthalmoplegia with mitochondrial dna deletions 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
encephalopathy, progressive, with or without lipodystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the encephalopathy, progressive, with or without lipodystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
cataract 27, nuclear progressive Gene SetFrom OMIM Gene-Disease Associations genes associated with the cataract 27, nuclear progressive phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, progressive, seizures, and cerebral and cerebellar atrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
progressive external ophthalmoplegia, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the progressive external ophthalmoplegia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
heart block, progressive, type ia Gene SetFrom OMIM Gene-Disease Associations genes associated with the heart block, progressive, type ia phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, progressive myoclonic 1a (unverricht and lundborg) Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, progressive myoclonic 1a (unverricht and lundborg) phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, progressive myoclonic 1b Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, progressive myoclonic 1b phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, progressive myoclonic 2a (lafora) Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, progressive myoclonic 2a (lafora) phenotype from the curated OMIM Gene-Disease Associations dataset. |
Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2 Gene Setproteins participating in the Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2 pathway from the Reactome Pathways dataset. |
Primary Progressive Aphasia (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Primary Progressive Aphasia (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Cone Dystrophy (Without Rod Involvement) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Cone Dystrophy (Without Rod Involvement) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Cgvhd Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Cgvhd in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Intrahepatic Cholestasis (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Intrahepatic Cholestasis (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Idiopathic Rapidly Progressive Glomerulonephritis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Idiopathic Rapidly Progressive Glomerulonephritis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Slowly Progressive Insulin Dependent Diabetes Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Slowly Progressive Insulin Dependent Diabetes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Rapidly Progressive Glomerulonephritis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Rapidly Progressive Glomerulonephritis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Supranuclear Palsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Supranuclear Palsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Pseudorheumatoid Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Pseudorheumatoid Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Sensorineural Hearing Impairment Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Sensorineural Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Generalized Progressive Retinal Atrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Generalized Progressive Retinal Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multiple Sclerosis, Primary Progressive Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multiple Sclerosis, Primary Progressive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chronic Progressive External Ophthalmoplegia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Progressive External Ophthalmoplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Progressive Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Progressive Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Cerebellar Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Cerebellar Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Cerebellar Degeneration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Cerebellar Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Muscular Atrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Muscular Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Cone-Rod Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Cone-Rod Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Intellectual Disability And Progressive Spastic Paraplegia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Intellectual Disability And Progressive Spastic Paraplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Primary Progressive Nonfluent Aphasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Primary Progressive Nonfluent Aphasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Multiple Sclerosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Multiple Sclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Distal Muscular Atrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Distal Muscular Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Post Hemorrhagic Ventricular Dilatation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Post Hemorrhagic Ventricular Dilatation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Cataract Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Cataract in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Rapidly Progressive Dementia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Rapidly Progressive Dementia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chronic Progressive Chorea Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Progressive Chorea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Spinal Muscular Atrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Spinal Muscular Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Bulbar Palsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Bulbar Palsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Retinal Atrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Retinal Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multiple Sclerosis, Secondary Progressive Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multiple Sclerosis, Secondary Progressive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multiple Sclerosis, Chronic Progressive Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multiple Sclerosis, Chronic Progressive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Rapidly Progressive Periodontitis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Rapidly Progressive Periodontitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Ptosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Ptosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Brain Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Brain Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Cone Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Cone Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive External Ophthalmoplegia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive External Ophthalmoplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Ophthalmoplegia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Ophthalmoplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Non-Small Cell Lung Cancer Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Non-Small Cell Lung Cancer in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ophthalmoplegia, Progressive Supranuclear Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ophthalmoplegia, Progressive Supranuclear in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Supranuclear Palsy, Progressive, 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Supranuclear Palsy, Progressive, 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chorioretinal Atrophy, Progressive Bifocal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chorioretinal Atrophy, Progressive Bifocal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Renal Failure, Progressive, With Hypertension Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Renal Failure, Progressive, With Hypertension in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pf-Ild-Progressive Fibrosing Interstitial Lung Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pf-Ild-Progressive Fibrosing Interstitial Lung Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Logopenic Progressive Aphasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Logopenic Progressive Aphasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Encephalomyelitis With Rigidity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Encephalomyelitis With Rigidity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Symmetrical Progressive Peripheral Demyelination Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Symmetrical Progressive Peripheral Demyelination in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Hearing Loss Stapes Fixation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Hearing Loss Stapes Fixation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Chorea Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Chorea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Non-Progressive Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Non-Progressive Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Prickle1-Related Progressive Myoclonus Epilepsy With Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Prickle1-Related Progressive Myoclonus Epilepsy With Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Piebaldism, Progressive Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Piebaldism, Progressive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Progressive Hyper And Hypopigmentation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Progressive Hyper And Hypopigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Reticulate Hyperpigmentation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Reticulate Hyperpigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Subcortical Gliosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Subcortical Gliosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Supranuclear Palsy, Progressive, 1, Atypical Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Supranuclear Palsy, Progressive, 1, Atypical in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Visual Impairment And Progressive Phthisis Bulbi Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Visual Impairment And Progressive Phthisis Bulbi in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cochleosaccular Degeneration Of The Inner Ear And Progressive Cataracts Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cochleosaccular Degeneration Of The Inner Ear And Progressive Cataracts in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Macrothrombocytopenia And Progressive Sensorineural Deafness Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Macrothrombocytopenia And Progressive Sensorineural Deafness in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Cavitating Leukoencephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Cavitating Leukoencephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Rapidly Progressive Osteoarthritis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Rapidly Progressive Osteoarthritis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Optic Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Optic Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dysphagia, Progressive Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dysphagia, Progressive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Congenital Scoliosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Congenital Scoliosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Polyneuropathy With Bilateral Striatal Necrosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Polyneuropathy With Bilateral Striatal Necrosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Childhood Progressive Bulbar Palsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Childhood Progressive Bulbar Palsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Proximal Myelopathic Muscular Atrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Proximal Myelopathic Muscular Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Myoclonic Epilepsy With Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Myoclonic Epilepsy With Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Familial Heart Block Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Familial Heart Block in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Arterial Occlusive Disease, Progressive, With Hypertension, Heart Defects, Bone Fragility, And Brachysyndactyly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Arterial Occlusive Disease, Progressive, With Hypertension, Heart Defects, Bone Fragility, And Brachysyndactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Leukoencephalopathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Leukoencephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Peripheral Neuropathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Peripheral Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Night Blindness Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Night Blindness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Neoplastic Disease Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Neoplastic Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Neurologic Deterioration Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Neurologic Deterioration in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Spastic Paraplegia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Spastic Paraplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Spasticity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Spasticity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Hearing Impairment Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Proximal Muscle Weakness Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Proximal Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Microcephaly Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Microcephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Intellectual Disability, Progressive Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Intellectual Disability, Progressive in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Spastic Quadriplegia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Spastic Quadriplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Muscle Weakness Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Cervical Vertebral Spine Fusion Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Cervical Vertebral Spine Fusion in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Spastic Paraparesis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Spastic Paraparesis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Visual Loss Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Visual Loss in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Flexion Contractures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Flexion Contractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Macrocephaly Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Macrocephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Gait Ataxia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Gait Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Inability To Walk Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Inability To Walk in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Pes Cavus Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Pes Cavus in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Subacute Progressive Viral Hepatitis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Subacute Progressive Viral Hepatitis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Rapidly Progressive Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Rapidly Progressive in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Psychomotor Deterioration Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Psychomotor Deterioration in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Paraparesis, Chronic Progressive Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Paraparesis, Chronic Progressive in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Extrapyramidal Movement Disorder Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Extrapyramidal Movement Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Intervertebral Space Narrowing Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Intervertebral Space Narrowing in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Clavicular Acroosteolysis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Clavicular Acroosteolysis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Conductive Hearing Impairment Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Conductive Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Visual Field Defects Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Visual Field Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Encephalopathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Distal Muscle Weakness Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Distal Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Sensorineural Hearing Loss, Progressive Bilateral Postlingual Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Sensorineural Hearing Loss, Progressive Bilateral Postlingual in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Ventriculomegaly Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Ventriculomegaly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Language Deterioration Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Language Deterioration in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Calcification Of Costochondral Cartilage Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Calcification Of Costochondral Cartilage in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Alveolar Ridge Hypertropy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Alveolar Ridge Hypertropy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Forgetfulness Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Forgetfulness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Truncal Ataxia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Truncal Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Hyperpigmentation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Hyperpigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Choreoathetosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Choreoathetosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Loss Of Facial Adipose Tissue Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Loss Of Facial Adipose Tissue in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Extrapyramidal Muscular Rigidity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Extrapyramidal Muscular Rigidity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Leg Bowing Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Leg Bowing in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Vitiligo Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Vitiligo in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Hypotrichosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Hypotrichosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Pulmonary Function Impairment Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Pulmonary Function Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Fusion 2Nd-5Th Pip Joints Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Fusion 2Nd-5Th Pip Joints in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Sclerosis Of Skull Base Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Sclerosis Of Skull Base in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Inspiratory Stridor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Inspiratory Stridor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Alopecia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Alopecia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
progressive muscle weakness Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the progressive muscle weakness phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased sperm progressive motility Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased sperm progressive motility phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
progressive hair loss Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the progressive hair loss phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal sperm progressive motility Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal sperm progressive motility phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2 Gene Setproteins participating in the Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2 pathway from the Reactome Pathways 2024 dataset. |
Chronic progressive external ophthalmoplegia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Chronic progressive external ophthalmoplegia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Progressive familial heart block Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Progressive familial heart block from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Progressive bulbar palsy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Progressive bulbar palsy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Progressive familial intrahepatic cholestasis Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Progressive familial intrahepatic cholestasis from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Progressive supranuclear palsy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Progressive supranuclear palsy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Progressive myoclonus epilepsy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy 1B Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Progressive myoclonus epilepsy 1B from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy 1A Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Progressive myoclonus epilepsy 1A from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Spinal muscular atrophy with progressive myoclonic epilepsy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Spinal muscular atrophy with progressive myoclonic epilepsy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Progressive osseous heteroplasia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Progressive osseous heteroplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy 4 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Progressive myoclonus epilepsy 4 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Progressive pseudorheumatoid arthropathy of childhood Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Progressive pseudorheumatoid arthropathy of childhood from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Progressive bulbar palsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive bulbar palsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive myoclonus epilepsy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive myoclonus epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive myoclonus epilepsy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive supranuclear palsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive supranuclear palsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary progressive multiple sclerosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary progressive multiple sclerosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Secondary progressive multiple sclerosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Secondary progressive multiple sclerosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive familial intrahepatic cholestasis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive familial intrahepatic cholestasis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive familial intrahepatic cholestasis 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive familial intrahepatic cholestasis 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive familial intrahepatic cholestasis 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive familial intrahepatic cholestasis 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive familial intrahepatic cholestasis 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive familial intrahepatic cholestasis 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive familial intrahepatic cholestasis 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive familial intrahepatic cholestasis 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive familial intrahepatic cholestasis 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive familial intrahepatic cholestasis 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Chronic progressive external ophthalmoplegia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Chronic progressive external ophthalmoplegia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary progressive aphasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary progressive aphasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spastic tetraplegia, thin corpus callosum, and progressive microcephaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive non-fluent aphasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive non-fluent aphasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive leukoencephalopathy with ovarian failure Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive leukoencephalopathy with ovarian failure in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive multifocal leukoencephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive multifocal leukoencephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Rapidly progressive glomerulonephritis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Rapidly progressive glomerulonephritis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive relapsing multiple sclerosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive relapsing multiple sclerosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinal muscular atrophy with progressive myoclonic epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinal muscular atrophy with progressive myoclonic epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy 10 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive myoclonus epilepsy 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy 1A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive myoclonus epilepsy 1A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive muscular atrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive muscular atrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Logopenic progressive aphasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Logopenic progressive aphasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive familial heart block Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive familial heart block in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive familial heart block type IA Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive familial heart block type IA in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive osseous heteroplasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive osseous heteroplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive familial heart block type II Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive familial heart block type II in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive familial heart block type IB Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive familial heart block type IB in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive myoclonus epilepsy 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial progressive hyperpigmentation with or without hypopigmentation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial progressive hyperpigmentation with or without hypopigmentation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive myoclonus epilepsy 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Early onset progressive encephalopathy with brain atrophy and thin corpus callosum Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Early onset progressive encephalopathy with brain atrophy and thin corpus callosum in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive pseudorheumatoid arthropathy of childhood Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive pseudorheumatoid arthropathy of childhood in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Idiopathic progressive polyneuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Idiopathic progressive polyneuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy 1B Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive myoclonus epilepsy 1B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive myoclonus epilepsy 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive myoclonus epilepsy 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Visual impairment and progressive phthisis bulbi Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Visual impairment and progressive phthisis bulbi in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive myoclonic epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive myoclonic epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive external ophthalmoplegia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive external ophthalmoplegia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive distal muscle weakness Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive distal muscle weakness phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive proximal muscle weakness Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive proximal muscle weakness phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive sclerosing poliodystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive sclerosing poliodystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive pseudorheumatoid dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive pseudorheumatoid dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive familial intrahepatic cholestasis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive familial intrahepatic cholestasis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive cone dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive cone dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive familial heart block Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive familial heart block phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive supranuclear ophthalmoplegia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive supranuclear ophthalmoplegia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive osseous heteroplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive osseous heteroplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive sensorineural hearing impairment Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive sensorineural hearing impairment phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive scapulohumeroperoneal distal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive scapulohumeroperoneal distal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive myositis ossificans Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive myositis ossificans phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked progressive cerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked progressive cerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Chronic and progressive ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Chronic and progressive ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Non-progressive congenital cerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Non-progressive congenital cerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Primary progressive aphasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Primary progressive aphasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Skeletal dysplasia and progressive central nervous system degeneration Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Skeletal dysplasia and progressive central nervous system degeneration phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive demyelinating neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive demyelinating neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive progressive external ophthalmoplegia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive progressive external ophthalmoplegia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive neurologic deterioration Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive neurologic deterioration phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive bulbar palsy of childhood Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive bulbar palsy of childhood phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive cerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive cerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive muscle weakness Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive muscle weakness phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Primary progressive multiple sclerosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Primary progressive multiple sclerosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive spasticity Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive spasticity phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive childhood encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive childhood encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive microcephaly Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive microcephaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive peripheral neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive peripheral neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive gait ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive gait ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive retinal dystrophy due to retinol transport defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive retinal dystrophy due to retinol transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Visual impairment and progressive phthisis bulbi Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Visual impairment and progressive phthisis bulbi phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive supranuclear palsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Progressive supranuclear palsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Lynch syndrome:Turcot syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome and Noonan-related syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marfan's syndrome:Marfan's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marfan's syndrome:Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
IFAP syndrome with or without BRESHECK syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the IFAP syndrome with or without BRESHECK syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome I:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome I:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Miller-McKusick-Malvaux-Syndrome (3M Syndrome) from the curated CTD Gene-Disease Associations dataset. |
Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 from the curated CTD Gene-Disease Associations dataset. |
menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cornelia de lange syndrome; de lange syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cornelia de lange syndrome; de lange syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatigue syndrome, chronic; fatigue syndrome; postviral Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene SetFrom GAD Gene-Disease Associations genes associated with the disease resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
restless legs syndrome; tourette syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
behcet syndrome; uveomeningoencephalitic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease behcet syndrome; uveomeningoencephalitic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
melas syndrome; merrf syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease melas syndrome; merrf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infertility; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infertility; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
angelman syndrome; rett syndrome; seizures Gene SetFrom GAD Gene-Disease Associations genes associated with the disease angelman syndrome; rett syndrome; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
digeorge syndrome; memory disorders; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; memory disorders; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
metabolic syndrome ; metabolic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease metabolic syndrome ; metabolic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
digeorge syndrome; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
down syndrome; ehlers-danlos syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease down syndrome; ehlers-danlos syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis; felty's syndrome; large granular lymphocyte syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis; felty's syndrome; large granular lymphocyte syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; metabolic syndrome x; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart-hand syndrome, holt-oram syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart-hand syndrome, holt-oram syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
digeorge syndrome/velocardiofacial syndrome complex-2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the digeorge syndrome/velocardiofacial syndrome complex-2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ifap syndrome with or without bresheck syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the ifap syndrome with or without bresheck syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Crouzon syndrome-acanthosis nigricans syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Crouzon syndrome-acanthosis nigricans syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Noonan syndrome and Noonan-related syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Crouzon syndrome-acanthosis nigricans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked cerebral-cerebellar-coloboma syndrome syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked cerebral-cerebellar-coloboma syndrome syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
visceral fat deposits and the metabolic syndrome Gene SetFrom Biocarta Pathways proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset. |
Branchiootic syndrome 3 Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple synostoses syndrome 3 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Char syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fragile X syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fragile X syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Shwachman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Shwachman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Greig cephalopolysyndactyly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Greig cephalopolysyndactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Melnick-Fraser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Melnick-Fraser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marfan's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Melnick-Needles syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Melnick-Needles syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Branchiootorenal syndrome 2 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lesch-Nyhan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oculofaciocardiodental syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oculofaciocardiodental syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Robinow Sorauf syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Robinow Sorauf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
17q2131 microdeletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 17q2131 microdeletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Desbuquois syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Desbuquois syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macrocephaly/autism syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteopenic nonfracture syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Barakat syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Barakat syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Raine syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Raine syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Digitorenocerebral syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alport syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alstrom syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alstrom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperinsulinism-hyperammonemia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperinsulinism-hyperammonemia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 17 Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal multiple pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MORM syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MORM syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Upshaw-Schulman syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Martsolf syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Martsolf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1D Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1J Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hurler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Angelman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Angelman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lig4 syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hajdu-Cheney syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperferritinemia cataract syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chudley-McCullough syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Poretti-boltshauser syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Young Simpson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Frasier syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frasier syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
C-like syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pili torti-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gorlin syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marshall syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marshall syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2C Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carpenter syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
22q133 deletion syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 14 Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Waardenburg syndrome type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Steel syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Roberts-SC phocomelia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bloom syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bloom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
McLeod neuroacanthocytosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the McLeod neuroacanthocytosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebrooculofacioskeletal syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebrooculofacioskeletal syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebrooculofacioskeletal syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebrooculofacioskeletal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nicolaides-Baraitser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nicolaides-Baraitser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nager syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nager syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chédiak-Higashi syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chédiak-Higashi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kindler's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kindler's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnevale syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnevale syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kenny syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rienhoff syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2A Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Weaver syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Weaver syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome I Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypotrichosis-lymphedema-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
LEOPARD syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LEOPARD syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 9 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyper-IgE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tourette Syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gamstorp-Wohlfart syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Turcot syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 7 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alopecia, neurologic defects, and endocrinopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Weill-Marchesani-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Netherton syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Netherton syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome, type 4b Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome, type 4b phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Feingold syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1 Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoimmune lymphoproliferative syndrome, type 2 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 5 (encephalomyopathic with or without methylmalonic aciduria) Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Costello syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ochoa syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ochoa syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bruck syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bruck syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bruck syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bruck syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Achalasia-alacrima syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Achalasia-alacrima syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cryptophthalmos syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ovarian hyperstimulation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ovarian hyperstimulation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Otofaciocervical syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Otofaciocervical syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kaufman oculocerebrofacial syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Branchiooculofacial syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branchiooculofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Karak syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Karak syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 12 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jankovic Rivera syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nakajo syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nakajo syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chromosome Xq28 deletion syndrome Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fanconi-Bickel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
short QT syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 16 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contracture syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form Gene SetFrom 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. |
Leprechaunism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leprechaunism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Simpson-Golabi-Behmel syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dysequilibrium syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Johanson-Blizzard syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
GRACILE syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kowarski syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kowarski syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ADULT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ADULT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel-Gruber syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neutrophil immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coffin-Lowry syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coffin-Lowry syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 1 Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pierson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pfeiffer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pfeiffer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome 1 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Perrault syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jensen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jensen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Werner syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Werner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aarskog syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aarskog syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Enamel-renal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Enamel-renal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 21 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 20 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 22 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Keutel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pitt-Hopkins syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stiff skin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lenz microphthalmia syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Grebe syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Saethre-Chotzen syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Wieacker syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Wieacker syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kabuki make-up syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kabuki make-up syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cohen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cohen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oligodontia-colorectal cancer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oligodontia-colorectal cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Filippi syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primrose syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Perrault syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marshall-Smith syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marshall-Smith syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brittle cornea syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rotor syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rotor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oral-facial-digital syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gray platelet syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mast syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mast syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amish infantile epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amish infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meacham syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meacham syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stormorken syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stormorken syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Opitz-Frias syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Yunis Varon syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Yunis Varon syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cowden syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cowden syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mulibrey nanism syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the SeSAME syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Odontotrichomelic syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Van Maldergem syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Robinow syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Orofaciodigital syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Orofaciodigital syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Orofaciodigital syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Distichiasis-lymphedema syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Distichiasis-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Townes syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Townes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neu-Laxova syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neu-Laxova syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Winchester syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Winchester syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Unverricht-Lundborg syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Unverricht-Lundborg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Verheij syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arterial tortuosity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Juvenile polyposis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Juvenile polyposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Papillon-Lefèvre syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peters plus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ulnar-mammary syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Beckwith-Wiedemann syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sotos' syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dyggve-Melchior-Clausen syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rhabdoid tumor predisposition syndrome 2 Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tatton-Brown-rahman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
COACH syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sudden infant death syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dursun syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dursun syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carpenter syndrome 2 Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Haim-Munk syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Knobloch syndrome 1 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Serkal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marinesco-Sjögren syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marinesco-Sjögren syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Seckel syndrome 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Seckel syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Seckel syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Seckel syndrome 7 Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Urofacial syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gordon's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gordon's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arts syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arts syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
McKusick Kaufman syndrome Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoimmune polyglandular syndrome type 1, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |