| Name |
|---|
PKDTS Genepolycystic kidney disease, infantile severe, with tuberous sclerosis |
EIM GeneInfantile myoclonic epilepsy |
USH1C GeneUsher syndrome 1C (autosomal recessive, severe) This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] |
USH1E GeneUsher syndrome 1E (autosomal recessive, severe) |
MRST GeneMental retardation, severe, with spasticity and tapetoretinal |
COPD GenePulmonary disease, chronic obstructive, severe early-onset |
FAME4 GeneEpilepsy, familial adult myoclonic, 4 |
FAME3 GeneEpilepsy, familial adult myoclonic, 3 |
FCMTE2 Genefamilial cortical myoclonic tremor with epilepsy 2 |
FCMTE1 Genefamilial cortical myoclonic tremor with epilepsy 1 |
EJM3 GeneEpilepsy, juvenile myoclonic 3 |
EJM2 Geneepilepsy, juvenile myoclonic 2 |
EJM4 GeneMyoclonic epilepsy, juvenile, 4 |
EJM9 GeneEpilepsy, juvenile myoclonic, susceptiblity to, 9 |
DYT15 Genedystonia 15, myoclonic |
BFIS1 Genebenign familial infantile convulsions |
NYS5 GeneNystagmus 5, infantile periodic alternating |
CLN6 Geneceroid-lipofuscinosis, neuronal 6, late infantile, variant This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008] |
BFIS4 GeneConvulsions, benign familial infantile, 4 |
BFIC2 GeneBenign familial infantile convulsions-2 |
GLC3B Geneglaucoma 3, primary infantile, B |
IHPS2 GenePyloric stenosis, infantile hypertrophic, 2 |
CMS1A1 Genemyasthenia gravis, familial infantile, 1 |
IHPS5 GenePyloric stenosis, infantile hypertrophic, 5 |
IHPS4 GenePyloric stenosis, infantile hypertrophic, 4 |
IHPS3 GenePyloric stenosis, infantile hypertrophic, 3 |
Infantile Severe Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Severe Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
epilepsy, absence; epilepsy, generalized; epilepsy, reflex; myoclonic epilepsy, juvenile Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, absence; epilepsy, generalized; epilepsy, reflex; myoclonic epilepsy, juvenile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Myoclonic epilepsy, familial infantile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myoclonic epilepsy, familial infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MYOCLONIC EPILEPSY, FAMILIAL INFANTILE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOCLONIC EPILEPSY, FAMILIAL INFANTILE from the curated CTD Gene-Disease Associations dataset. |
myoclonic epilepsy, infantile, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the myoclonic epilepsy, infantile, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
Benign Infantile Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Benign Infantile Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial infantile myoclonic epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial infantile myoclonic epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe myoclonic epilepsy in infancy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe myoclonic epilepsy in infancy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe myoclonic epilepsy in infancy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe myoclonic epilepsy in infancy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
epilepsy; myoclonic epilepsy, juvenile Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; myoclonic epilepsy, juvenile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
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. |
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. |
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. |
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. |
Epilepsy, familial adult myoclonic, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, familial adult myoclonic, 5 phenotype from the curated ClinVar Gene-Phenotype 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. |
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. |
Epilepsy, Familial Adult Myoclonic, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Familial Adult Myoclonic, 3 from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Myoclonic, Benign Adult Familial, Type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Myoclonic, Benign Adult Familial, Type 1 from the curated CTD Gene-Disease Associations dataset. |
Myoclonic Epilepsy, Juvenile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myoclonic Epilepsy, Juvenile from the curated CTD Gene-Disease Associations dataset. |
juvenile myoclonic epilepsy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease juvenile myoclonic epilepsy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
myoclonic epilepsy, juvenile Gene SetFrom GAD Gene-Disease Associations genes associated with the disease myoclonic epilepsy, juvenile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
juvenile myoclonic epilepsy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease juvenile myoclonic epilepsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, juvenile myoclonic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, juvenile myoclonic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Myoclonic Epilepsy, Juvenile Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Myoclonic Epilepsy, Juvenile phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype 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. |
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. |
{epilepsy, juvenile myoclonic, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, juvenile myoclonic, susceptibility to} 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. |
{myoclonic epilepsy, juvenile, susceptibility to, 1} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {myoclonic epilepsy, juvenile, susceptibility to, 1} phenotype from the curated OMIM Gene-Disease Associations dataset. |
?epilepsy, familial adult myoclonic, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?epilepsy, familial adult myoclonic, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, juvenile myoclonic, susceptibility to, 5} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, juvenile myoclonic, susceptibility to, 5} phenotype from the curated OMIM Gene-Disease Associations dataset. |
myoclonic epilepsy, juvenile, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myoclonic epilepsy, juvenile, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, juvenile myoclonic, susceptiblity to, 9} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, juvenile myoclonic, susceptiblity to, 9} 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. |
epilepsy, familial adult myoclonic, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, familial adult myoclonic, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, juvenile myoclonic, susceptibility to, 8} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, juvenile myoclonic, susceptibility to, 8} 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. |
{epilepsy, juvenile myoclonic, susceptibility to, 6} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, juvenile myoclonic, susceptibility to, 6} phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, juvenile myoclonic 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, juvenile myoclonic 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, myoclonic, familial adult, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, myoclonic, familial adult, 3 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. |
Myoclonic epilepsy of Lafora Gene Setproteins participating in the Myoclonic epilepsy of Lafora pathway from the Reactome Pathways dataset. |
Juvenile Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Juvenile Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 (Disorder) 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. |
Benign Adult Familial Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Benign Adult Familial Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Juvenile Myoclonic Epilepsy Of Janz Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Juvenile Myoclonic Epilepsy Of Janz in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myoclonic-Atonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myoclonic-Atonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Early Childhood Epilepsy, Myoclonic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Early Childhood Epilepsy, Myoclonic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Idiopathic Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Idiopathic Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Symptomatic Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Symptomatic Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Refractory Juvenile Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Refractory Juvenile Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Refractory Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Refractory Myoclonic Epilepsy 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. |
Myoclonic epilepsy of Lafora Gene Setproteins participating in the Myoclonic epilepsy of Lafora pathway from the Reactome Pathways 2024 dataset. |
Juvenile myoclonic epilepsy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Juvenile myoclonic epilepsy 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. |
Juvenile myoclonic epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Juvenile myoclonic epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Juvenile myoclonic epilepsy 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Juvenile myoclonic epilepsy 3 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. |
Familial adult myoclonic epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial adult myoclonic epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
myoclonic-atonic epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease myoclonic-atonic epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial adult myoclonic epilepsy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial adult myoclonic epilepsy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial adult myoclonic epilepsy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial adult myoclonic epilepsy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial adult myoclonic epilepsy 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial adult myoclonic epilepsy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial adult myoclonic epilepsy 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial adult myoclonic epilepsy 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial adult myoclonic epilepsy 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial adult myoclonic epilepsy 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial adult myoclonic epilepsy 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial adult myoclonic epilepsy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Juvenile myoclonic epilepsy 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Juvenile myoclonic epilepsy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial adult myoclonic epilepsy 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial adult myoclonic epilepsy 7 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. |
Myoclonic epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myoclonic epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Juvenile myoclonic epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Juvenile myoclonic epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myoclonic epilepsy of Lafora Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myoclonic epilepsy of Lafora 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. |
Juvenile myoclonic epilepsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Juvenile myoclonic epilepsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Sialic acid storage disease, severe infantile type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sialic acid storage disease, severe infantile type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Polycystic kidneys, severe infantile with tuberous sclerosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polycystic kidneys, severe infantile with tuberous sclerosis from the curated CTD Gene-Disease Associations dataset. |
polycystic kidney disease, infantile severe, with tuberous sclerosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the polycystic kidney disease, infantile severe, with tuberous sclerosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Erosive tooth wear (severe vs non-severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Erosive tooth wear (severe vs non-severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
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. |
Amish Infantile Epilepsy Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Amish Infantile Epilepsy Syndrome from the curated CTD Gene-Disease Associations dataset. |
benign familial infantile epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease benign familial infantile epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
amish infantile epilepsy syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the amish infantile epilepsy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
Amish Infantile Epilepsy Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Amish Infantile Epilepsy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Benign familial infantile epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Benign familial infantile epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal/infantile epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal/infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Benign familial infantile epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Benign familial infantile epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Benign sporadic infantile epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Benign sporadic infantile epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Self-limited familial infantile epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Self-limited familial infantile epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Spastic paraplegia-severe developmental delay-epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spastic paraplegia-severe developmental delay-epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
epilepsy, absence; epilepsy, generalized Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, absence; epilepsy, generalized in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, generalized; epilepsy, reflex Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, generalized; epilepsy, reflex in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, generalized; epilepsy, tonic-clonic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, generalized; epilepsy, tonic-clonic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Early myoclonic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early myoclonic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myoclonic dystonia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myoclonic dystonia 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. |
Dystonia 15, myoclonic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia 15, myoclonic from the curated CTD Gene-Disease Associations dataset. |
Epilepsies, Myoclonic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsies, Myoclonic from the curated CTD Gene-Disease Associations dataset. |
Myoclonic dystonia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myoclonic dystonia from the curated CTD Gene-Disease Associations dataset. |
early myoclonic encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease early myoclonic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
myoclonic cerebellar dyssynergia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease myoclonic cerebellar dyssynergia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
huntington disease; myoclonic cerebellar dyssynergia; spinocerebellar ataxias Gene SetFrom GAD Gene-Disease Associations genes associated with the disease huntington disease; myoclonic cerebellar dyssynergia; spinocerebellar ataxias 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. |
epilepsies, myoclonic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsies, myoclonic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsies, myoclonic; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsies, myoclonic; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
myoclonic Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term myoclonic in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
myoclonic spasms Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the myoclonic spasms phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
generalized myoclonic seizures Gene SetFrom HPO Gene-Disease Associations genes associated with the generalized myoclonic seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
myoclonic spasms Gene SetFrom HPO Gene-Disease Associations genes associated with the myoclonic spasms phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease 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. |
Epilepsies, Myoclonic Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epilepsies, Myoclonic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Myoclonic Cerebellar Dyssynergia Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Myoclonic Cerebellar Dyssynergia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
dystonia, myoclonic Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia, myoclonic phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia-11, myoclonic Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia-11, myoclonic phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia-15, myoclonic Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia-15, myoclonic phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia, early-onset atypical, with myoclonic features Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia, early-onset atypical, with myoclonic features phenotype from the curated OMIM Gene-Disease Associations dataset. |
Generalized Myoclonic Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Generalized Myoclonic Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myoclonic Dystonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myoclonic Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Early Myoclonic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Early Myoclonic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Focal Myoclonic Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Focal Myoclonic Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myoclonic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myoclonic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myoclonic Cerebellar Dyssynergia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myoclonic Cerebellar Dyssynergia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myoclonic Absences Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myoclonic Absences in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myoclonic Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myoclonic Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myoclonic Seizures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Myoclonic Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Myoclonic Spasms Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Myoclonic Spasms in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Morning Myoclonic Jerks Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Morning Myoclonic Jerks in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Segmental Myoclonic Seizures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Segmental Myoclonic Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Early myoclonic encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Early myoclonic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myoclonic cerebellar dyssynergia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myoclonic cerebellar dyssynergia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myoclonic dystonia 26 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myoclonic dystonia 26 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myoclonic dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myoclonic dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myoclonic dystonia 11 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myoclonic dystonia 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Early myoclonic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early myoclonic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myoclonic dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myoclonic dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Generalized myoclonic seizure Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Generalized myoclonic seizure phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myoclonic absence seizure Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myoclonic absence seizure phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Benign familial neonatal-infantile seizures Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Benign familial neonatal-infantile seizures phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile convulsions and paroxysmal choreoathetosis, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile convulsions and paroxysmal choreoathetosis, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoinflammation with infantile enterocolitis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoinflammation with infantile enterocolitis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Galactosialidosis, late infantile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Galactosialidosis, late infantile 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. |
Early infantile epileptic encephalopathy 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnitine palmitoyltransferase II deficiency, infantile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnitine palmitoyltransferase II deficiency, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 23 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 23 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glycogen storage disease type II, infantile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glycogen storage disease type II, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked infantile nystagmus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked infantile nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile myofibromatosis 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile myofibromatosis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 14 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. |
Infantile nephronophthisis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile nephronophthisis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Galactosialidosis, early infantile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Galactosialidosis, early infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyloric stenosis, infantile hypertrophic, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyloric stenosis, infantile hypertrophic, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sandhoff disease, infantile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sandhoff disease, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile hypophosphatasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile hypophosphatasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile GM1 gangliosidosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile GM1 gangliosidosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile neuroaxonal dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile neuroaxonal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile-onset ascending hereditary spastic paralysis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile-onset ascending hereditary spastic paralysis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Metachromatic leukodystrophy, late infantile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Metachromatic leukodystrophy, late infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile neuroaxonal neurodegeneration with facial dysmorphism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile neuroaxonal neurodegeneration with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Polycystic kidney disease, infantile type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Polycystic kidney disease, infantile type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial infantile myasthenia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial infantile myasthenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Liver failure acute infantile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Liver failure acute infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 28 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 28 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 24 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 24 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 25 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 25 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 26 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 26 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 27 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 27 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 21 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile Parkinsonism-dystonia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile Parkinsonism-dystonia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sting-associated vasculopathy, infantile-onset Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sting-associated vasculopathy, infantile-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoimmune disease, multisystem, infantile-onset Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoimmune disease, multisystem, infantile-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 19 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile cortical hyperostosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile cortical hyperostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Parkinsonism-Dystonia, Infantile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Parkinsonism-Dystonia, Infantile from the curated CTD Gene-Disease Associations dataset. |
Epileptic Encephalopathy, Early Infantile, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 4 from the curated CTD Gene-Disease Associations dataset. |
Epileptic Encephalopathy, Early Infantile, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 1 from the curated CTD Gene-Disease Associations dataset. |
Epileptic Encephalopathy, Early Infantile, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 2 from the curated CTD Gene-Disease Associations dataset. |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Myasthenia, Familial Infantile, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myasthenia, Familial Infantile, 1 from the curated CTD Gene-Disease Associations dataset. |
Hereditary spastic paralysis, infantile onset ascending Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary spastic paralysis, infantile onset ascending from the curated CTD Gene-Disease Associations dataset. |
Ceroid lipofuscinosis, neuronal 1, infantile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ceroid lipofuscinosis, neuronal 1, infantile from the curated CTD Gene-Disease Associations dataset. |
Infantile polyarteritis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Infantile polyarteritis from the curated CTD Gene-Disease Associations dataset. |
LIVER FAILURE, INFANTILE, TRANSIENT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease LIVER FAILURE, INFANTILE, TRANSIENT from the curated CTD Gene-Disease Associations dataset. |
Refsum Disease, Infantile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Refsum Disease, Infantile from the curated CTD Gene-Disease Associations dataset. |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 from the curated CTD Gene-Disease Associations dataset. |
Glaucoma 3, primary infantile, B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glaucoma 3, primary infantile, B from the curated CTD Gene-Disease Associations dataset. |
SEIZURES, BENIGN FAMILIAL INFANTILE, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SEIZURES, BENIGN FAMILIAL INFANTILE, 2 from the curated CTD Gene-Disease Associations dataset. |
Pyloric Stenosis, Infantile Hypertrophic, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyloric Stenosis, Infantile Hypertrophic, 4 from the curated CTD Gene-Disease Associations dataset. |
Pyloric Stenosis, Infantile Hypertrophic, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyloric Stenosis, Infantile Hypertrophic, 2 from the curated CTD Gene-Disease Associations dataset. |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 from the curated CTD Gene-Disease Associations dataset. |
Hemangioma, capillary infantile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hemangioma, capillary infantile from the curated CTD Gene-Disease Associations dataset. |
Striatonigral degeneration infantile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Striatonigral degeneration infantile from the curated CTD Gene-Disease Associations dataset. |
Pyloric Stenosis, Infantile Hypertrophic, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyloric Stenosis, Infantile Hypertrophic, 5 from the curated CTD Gene-Disease Associations dataset. |
Spasms, Infantile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spasms, Infantile from the curated CTD Gene-Disease Associations dataset. |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 from the curated CTD Gene-Disease Associations dataset. |
Convulsions, Benign Familial Infantile, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Convulsions, Benign Familial Infantile, 4 from the curated CTD Gene-Disease Associations dataset. |
Pyloric Stenosis, Infantile Hypertrophic 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyloric Stenosis, Infantile Hypertrophic 1 from the curated CTD Gene-Disease Associations dataset. |
Epileptic Encephalopathy, Early Infantile, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 3 from the curated CTD Gene-Disease Associations dataset. |
Carnitine Palmitoyltransferase II Deficiency, Infantile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Infantile from the curated CTD Gene-Disease Associations dataset. |
Pyloric Stenosis, Infantile Hypertrophic, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyloric Stenosis, Infantile Hypertrophic, 3 from the curated CTD Gene-Disease Associations dataset. |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 from the curated CTD Gene-Disease Associations dataset. |
Hypophosphatasia, Infantile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypophosphatasia, Infantile from the curated CTD Gene-Disease Associations dataset. |
infantile onset spinocerebellar ataxia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease infantile onset spinocerebellar ataxia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
infantile onset spinocerebellar ataxia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease infantile onset spinocerebellar ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
infantile refsum disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease infantile refsum disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
fatal infantile encephalocardiomyopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease fatal infantile encephalocardiomyopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
seborrheic infantile dermatitis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease seborrheic infantile dermatitis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
neurofibromatosis 1; spasms, infantile Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neurofibromatosis 1; spasms, infantile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infantile hypophosphatasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infantile hypophosphatasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infantile hypertrophic pyloric stenosis. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infantile hypertrophic pyloric stenosis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial hemiplegic migraine and benign familial infantile convulsions Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial hemiplegic migraine and benign familial infantile convulsions in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
variant late infantile neuronal ceroid lipofuscinosis. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease variant late infantile neuronal ceroid lipofuscinosis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infantile-onset ascending hereditary spastic paralysis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infantile-onset ascending hereditary spastic paralysis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infantile hypertrophic pyloric stenosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infantile hypertrophic pyloric stenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diarrhea, infantile Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diarrhea, infantile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
spasms, infantile Gene SetFrom GAD Gene-Disease Associations genes associated with the disease spasms, infantile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infantile Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term infantile in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Infantile neuronal ceroid lipofuscinosis_Brain_GSE6678 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Infantile neuronal ceroid lipofuscinosis_Brain_GSE6678 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
Infantile hypertrophic pyloric stenosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Infantile hypertrophic pyloric stenosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
calcific stippling of infantile cartilaginous skeleton Gene SetFrom HPO Gene-Disease Associations genes associated with the calcific stippling of infantile cartilaginous skeleton phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
infantile onset Gene SetFrom HPO Gene-Disease Associations genes associated with the infantile onset phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
infantile hypercalcemia Gene SetFrom HPO Gene-Disease Associations genes associated with the infantile hypercalcemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
infantile muscular hypotonia Gene SetFrom HPO Gene-Disease Associations genes associated with the infantile muscular hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
infantile sensorineural hearing impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the infantile sensorineural hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
infantile encephalopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the infantile encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
infantile spasms Gene SetFrom HPO Gene-Disease Associations genes associated with the infantile spasms phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
infantile axial hypotonia Gene SetFrom HPO Gene-Disease Associations genes associated with the infantile axial hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Spasms, Infantile Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Spasms, Infantile phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Infantile Apparent Life-Threatening Event Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Infantile Apparent Life-Threatening Event phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Diarrhea, Infantile Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Diarrhea, Infantile phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
pyloric stenosis, infantile hypertrophic, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the pyloric stenosis, infantile hypertrophic, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
pyloric stenosis, infantile hypertrophic, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the pyloric stenosis, infantile hypertrophic, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
pyloric stenosis, infantile hypertrophic, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the pyloric stenosis, infantile hypertrophic, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
pyloric stenosis, infantile hypertrophic, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the pyloric stenosis, infantile hypertrophic, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 24 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 24 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 25 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 25 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 26 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 26 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 27 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 27 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 23 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 23 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinal muscular atrophy, x-linked 2, infantile Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinal muscular atrophy, x-linked 2, infantile phenotype from the curated OMIM Gene-Disease Associations dataset. |
seizures, benign familial infantile, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the seizures, benign familial infantile, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
seizures, benign familial infantile, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the seizures, benign familial infantile, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
seizures, benign familial infantile, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the seizures, benign familial infantile, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
seizures, benign familial infantile, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the seizures, benign familial infantile, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypertriglyceridemia, transient infantile Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypertriglyceridemia, transient infantile phenotype from the curated OMIM Gene-Disease Associations dataset. |
liver failure, transient infantile Gene SetFrom OMIM Gene-Disease Associations genes associated with the liver failure, transient infantile phenotype from the curated OMIM Gene-Disease Associations dataset. |
?myofibromatosis, infantile 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?myofibromatosis, infantile 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypercalcemia, infantile Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypercalcemia, infantile phenotype from the curated OMIM Gene-Disease Associations dataset. |
nephronophthisis 2, infantile Gene SetFrom OMIM Gene-Disease Associations genes associated with the nephronophthisis 2, infantile phenotype from the curated OMIM Gene-Disease Associations dataset. |
myofibromatosis, infantile, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myofibromatosis, infantile, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuroaxonal neurodegeneration, infantile, with facial dysmophism Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuroaxonal neurodegeneration, infantile, with facial dysmophism phenotype from the curated OMIM Gene-Disease Associations dataset. |
parkinsonism-dystonia, infantile Gene SetFrom OMIM Gene-Disease Associations genes associated with the parkinsonism-dystonia, infantile phenotype from the curated OMIM Gene-Disease Associations dataset. |
sting-associated vasculopathy, infantile-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the sting-associated vasculopathy, infantile-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
?infantile liver failure syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?infantile liver failure syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?infantile liver failure syndrome 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?infantile liver failure syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 17 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 17 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myasthenia, familial infantile, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myasthenia, familial infantile, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 15 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 15 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 16 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 16 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 19 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 19 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 18 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 18 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{hemangioma, capillary infantile, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {hemangioma, capillary infantile, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
nystagmus, infantile periodic alternating, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the nystagmus, infantile periodic alternating, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemangioma, capillary infantile, somatic Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemangioma, capillary infantile, somatic phenotype from the curated OMIM Gene-Disease Associations dataset. |
infantile neuroaxonal dystrophy 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the infantile neuroaxonal dystrophy 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?epileptic encephalopathy, early infantile, 21 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?epileptic encephalopathy, early infantile, 21 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypophosphatasia, infantile Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypophosphatasia, infantile phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
juvenile polyposis syndrome, infantile form Gene SetFrom OMIM Gene-Disease Associations genes associated with the juvenile polyposis syndrome, infantile form phenotype from the curated OMIM Gene-Disease Associations dataset. |
infantile cerebellar-retinal degeneration Gene SetFrom OMIM Gene-Disease Associations genes associated with the infantile cerebellar-retinal degeneration phenotype from the curated OMIM Gene-Disease Associations dataset. |
sandhoff disease, infantile, juvenile, and adult forms Gene SetFrom OMIM Gene-Disease Associations genes associated with the sandhoff disease, infantile, juvenile, and adult forms phenotype from the curated OMIM Gene-Disease Associations dataset. |
sialic acid storage disorder, infantile Gene SetFrom OMIM Gene-Disease Associations genes associated with the sialic acid storage disorder, infantile phenotype from the curated OMIM Gene-Disease Associations dataset. |
autoinflammation with infantile enterocolitis Gene SetFrom OMIM Gene-Disease Associations genes associated with the autoinflammation with infantile enterocolitis phenotype from the curated OMIM Gene-Disease Associations dataset. |
autoimmune disease, multisystem, infantile-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the autoimmune disease, multisystem, infantile-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
convulsions, familial infantile, with paroxysmal choreoathetosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the convulsions, familial infantile, with paroxysmal choreoathetosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
striatonigral degeneration, infantile Gene SetFrom OMIM Gene-Disease Associations genes associated with the striatonigral degeneration, infantile phenotype from the curated OMIM Gene-Disease Associations dataset. |
glaucoma 3, primary infantile, b Gene SetFrom OMIM Gene-Disease Associations genes associated with the glaucoma 3, primary infantile, b phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paralysis, infantile onset ascending Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paralysis, infantile onset ascending phenotype from the curated OMIM Gene-Disease Associations dataset. |
Defective CYP24A1 causes Hypercalcemia, infantile (HCAI) Gene Setproteins participating in the Defective CYP24A1 causes Hypercalcemia, infantile (HCAI) pathway from the Reactome Pathways dataset. |
Infantile Cardiomyopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Cardiomyopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Spasm Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Spasm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Nystagmus Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Nystagmus Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Myofibromatosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Myofibromatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Late-Infantile Neuronal Ceroid Lipfuscinosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Late-Infantile Neuronal Ceroid Lipfuscinosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Hemangioma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Hemangioma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Cerebellar-Retinal Degeneration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Cerebellar-Retinal Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Infantile Spinal Muscular Atrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Infantile Spinal Muscular Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Scurvy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Scurvy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autoimmune Disease, Multisystem, Infantile-Onset, 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autoimmune Disease, Multisystem, Infantile-Onset, 2 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chronic Infantile Neurological, Cutaneous, And Articular Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Infantile Neurological, Cutaneous, And Articular Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Early Infantile Epileptic Encephalopathy With Suppression Bursts Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Early Infantile Epileptic Encephalopathy With Suppression Bursts in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Hypophosphatasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Hypophosphatasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hereditary Spastic Paralysis, Infantile Onset Ascending Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hereditary Spastic Paralysis, Infantile Onset Ascending in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Uterus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Uterus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hemangioma, Capillary Infantile Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hemangioma, Capillary Infantile in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cryptogenic Infantile Spasms Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cryptogenic Infantile Spasms in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Refractory Infantile Spasms Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Refractory Infantile Spasms in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Neuroaxonal Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Neuroaxonal Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Neuronal Ceroid Lipofuscinosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Neuronal Ceroid Lipofuscinosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Striatonigral Degeneration, Infantile, Mitochondrial Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Striatonigral Degeneration, Infantile, Mitochondrial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Malignant Osteopetrosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Malignant Osteopetrosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Endemic Tyrolean Infantile Cirrhosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Endemic Tyrolean Infantile Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Fibrosarcoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Fibrosarcoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Necrotizing Encephalopathy, Infantile Subacute, Of Leigh in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Desmoplastic Infantile Astrocytoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Desmoplastic Infantile Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Desmoplastic Infantile Ganglioglioma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Desmoplastic Infantile Ganglioglioma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
X-Linked Infantile Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease X-Linked Infantile Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Refsum Disease (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Refsum Disease (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Infantile Myasthenia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Infantile Myasthenia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Onset Spinocerebellar Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Onset Spinocerebellar Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myasthenia, Familial Infantile, 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myasthenia, Familial Infantile, 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Symptomatic Infantile Spasms Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Symptomatic Infantile Spasms in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Cataract Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Cataract in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cystinosis, Infantile Nephropathic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cystinosis, Infantile Nephropathic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Idiopathic Infantile Hypercalcemia - Mild Form Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Idiopathic Infantile Hypercalcemia - Mild Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Fibromatosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Fibromatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fastkd2-Related Infantile Mitochondrial Encephalomyopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fastkd2-Related Infantile Mitochondrial Encephalomyopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Atopic Dermatitis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Atopic Dermatitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Globoid Cell Leukodystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Globoid Cell Leukodystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Sialic Acid Storage Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Sialic Acid Storage Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Sandhoff Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Sandhoff Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sting-Associated Vasculopathy, Infantile-Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sting-Associated Vasculopathy, Infantile-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Digital Fibromatosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Digital Fibromatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Liver Failure Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Liver Failure Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Late Infantile Neuroaxonal Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Late Infantile Neuroaxonal Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Constant Exotropia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Constant Exotropia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Gm 2 Gangliosidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Gm 2 Gangliosidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Diplegic Infantile Cerebral Palsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Diplegic Infantile Cerebral Palsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Apnea Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Apnea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Monoplegic Infantile Cerebral Palsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Monoplegic Infantile Cerebral Palsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Convulsions And Paroxysmal Choreoathetosis, Familial (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Convulsions And Paroxysmal Choreoathetosis, Familial (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Gastroenteritis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Gastroenteritis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Paralysis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Early Infantile Epileptic Encephalopathy, Refractory Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Early Infantile Epileptic Encephalopathy, Refractory in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fatal Infantile Mitochondrial Cardiomyopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fatal Infantile Mitochondrial Cardiomyopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Free Sialic Acid Storage Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Free Sialic Acid Storage Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Asthma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Asthma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Desmoplastic Infantile Astrocytoma And Ganglioglioma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Desmoplastic Infantile Astrocytoma And Ganglioglioma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Liver Failure, Infantile, Transient Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Liver Failure, Infantile, Transient in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Muscular Hypotonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Infantile Muscular Hypotonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Infantile Diarrhea Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Infantile Diarrhea in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Infantile Nystagmus Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Infantile Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Infantile Obesity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Infantile Obesity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Infantile Axial Hypotonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Infantile Axial Hypotonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Hemangioma, Capillary Infantile, Somatic Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hemangioma, Capillary Infantile, Somatic in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Infantile Colic Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Infantile Colic in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Infantile Sensorineural Hearing Impairment Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Infantile Sensorineural Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5619081 Gene Setproteins participating in the Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5619081 pathway from the Reactome Pathways 2024 dataset. |
Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5660724 Gene Setproteins participating in the Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5660724 pathway from the Reactome Pathways 2024 dataset. |
COX deficiency, infantile mitochondrial myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease COX deficiency, infantile mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile hypertrophic cardiomyopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Infantile hypertrophic cardiomyopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Early infantile epileptic encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Early infantile epileptic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile liver failure syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Infantile liver failure syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Fatal infantile hypertonic myofibrillar myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Fatal infantile hypertonic myofibrillar myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile Refsum disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Infantile Refsum disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Benign familial infantile seizures 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Benign familial infantile seizures 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile parkinsonism-dystonia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Infantile parkinsonism-dystonia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile hypophosphatasia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Infantile hypophosphatasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Seborrheic infantile dermatitis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Seborrheic infantile dermatitis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
COX deficiency, benign infantile mitochondrial myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease COX deficiency, benign infantile mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile cerebellar-retinal degeneration Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Infantile cerebellar-retinal degeneration in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile myofibromatosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Infantile myofibromatosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Benign familial infantile seizures 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Benign familial infantile seizures 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Transient infantile liver failure Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Transient infantile liver failure in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Benign familial infantile seizures 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Benign familial infantile seizures 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile hypotonia with psychomotor retardation and characteristic facies-3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Infantile hypotonia with psychomotor retardation and characteristic facies-3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile histiocytoid cardiomyopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Infantile histiocytoid cardiomyopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile liver failure syndrome 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Infantile liver failure syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile GM1 gangliosidosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile GM1 gangliosidosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Late-infantile neuronal ceroid lipofuscinosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Late-infantile neuronal ceroid lipofuscinosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial infantile myasthenia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial infantile myasthenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Chronic infantile neurological Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Chronic infantile neurological phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile-onset ascending hereditary spastic paralysis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile-onset ascending hereditary spastic paralysis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile onset spinocerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile onset spinocerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile neuroaxonal dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile neuroaxonal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile nephronophthisis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile nephronophthisis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Capillary infantile hemangioma Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Capillary infantile hemangioma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile hypophosphatasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile hypophosphatasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
LAMB2-related infantile-onset nephrotic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the LAMB2-related infantile-onset nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile cortical hyperostosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile cortical hyperostosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile cerebral and cerebellar atrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile cerebral and cerebellar atrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile nephropathic cystinosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile nephropathic cystinosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile spasms Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile spasms phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile convulsions and choreoathetosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile convulsions and choreoathetosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Fatal infantile hypertonic myofibrillar myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Fatal infantile hypertonic myofibrillar myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile myofibromatosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile myofibromatosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile Nephrotic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile Nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile cerebellar-retinal degeneration Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile cerebellar-retinal degeneration phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile bilateral striatal necrosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile bilateral striatal necrosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early Infantile Epileptic Encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early Infantile Epileptic Encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Fatal Infantile Cardioencephalomyopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Fatal Infantile Cardioencephalomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile liver failure syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile liver failure syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Periodic fever-infantile enterocolitis-autoinflammatory syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile osteopetrosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile osteopetrosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Syndromic Infantile Encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic Infantile Encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile-onset X-linked spinal muscular atrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile-onset X-linked spinal muscular atrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile hypercalcemia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile hypercalcemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
IL21-related infantile inflammatory bowel disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the IL21-related infantile inflammatory bowel disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile epileptic dyskinetic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile epileptic dyskinetic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile or childhood onset neurodegenerative disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile or childhood onset neurodegenerative disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile liver failure Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile liver failure phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile-onset generalized dyskinesia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile-onset generalized dyskinesia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive infantile hypercalcemia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive infantile hypercalcemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Transient infantile hypertriglyceridemia and hepatosteatosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Transient infantile hypertriglyceridemia and hepatosteatosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Episodic kinesigenic dyskinesia and familial infantile convulsions Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Episodic kinesigenic dyskinesia and familial infantile convulsions phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial infantile bilateral striatal necrosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial infantile bilateral striatal necrosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile hypertrophic pyloric stenosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Infantile hypertrophic pyloric stenosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, reducing body, X-linked, early-onset, severe Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, reducing body, X-linked, early-onset, severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency due to ADA deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 18, severe combined immunodeficiency variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 18, severe combined immunodeficiency variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperparathyroidism, neonatal severe Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperparathyroidism, neonatal severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe autosomal recessive muscular dystrophy of childhood - North African type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe autosomal recessive muscular dystrophy of childhood - North African type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 3, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 3, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ulna and fibula absence of with severe limb deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe X-linked myotubular myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 6, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency, atypical Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, atypical phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency with sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 2, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 4, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy, early-onset severe Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, early-onset severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Obesity, severe, due to leptin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation from the curated CTD Gene-Disease Associations dataset. |
Hyperparathyroidism, Neonatal Severe Primary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperparathyroidism, Neonatal Severe Primary from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency from the curated CTD Gene-Disease Associations dataset. |
Severe Dengue Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Dengue from the curated CTD Gene-Disease Associations dataset. |
Abnormalities, Severe Teratoid Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Abnormalities, Severe Teratoid from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Dominant 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 2 from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive from the curated CTD Gene-Disease Associations dataset. |
Severe combined immunodeficiency due to adenosine deaminase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset. |
Severe Acute Respiratory Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Acute Respiratory Syndrome from the curated CTD Gene-Disease Associations dataset. |
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Dominant 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset. |
HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION from the curated CTD Gene-Disease Associations dataset. |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive from the curated CTD Gene-Disease Associations dataset. |
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Reducing Body, X-Linked, Early-Onset, Severe from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Recessive 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Recessive 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset. |
severe combined immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease severe combined immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
severe congenital neutropenia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease severe congenital neutropenia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
severe acute respiratory syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe acute respiratory syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe nonproliferative diabetic retinopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe nonproliferative diabetic retinopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe combined immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe pre-eclampsia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe pre-eclampsia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe type iii hyperlipoproteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe type iii hyperlipoproteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyper-ige syndrome and severe eczema. atopy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyper-ige syndrome and severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe trauma. mortality Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe trauma. mortality in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe childhood thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe childhood thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sars (severe acute respiratory syndrome) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sars (severe acute respiratory syndrome) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyper-ige syndrome. severe eczema. atopy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyper-ige syndrome. severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe desmoid phenotype Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe desmoid phenotype in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mild and severe substance abuse Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mild and severe substance abuse in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe malaria Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe malaria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
communicable diseases; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease communicable diseases; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anoxemia; anoxia; pneumonia, viral; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anoxemia; anoxia; pneumonia, viral; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe acute radiotherapy side effects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe acute radiotherapy side effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe hyperkinetic disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe hyperkinetic disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe sepsis in blunt trauma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe sepsis in blunt trauma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lymphopenia; scid; severe combined immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lymphopenia; scid; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe ulcerative colitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe ulcerative colitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe sepsis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe sepsis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bone necrosis; osteonecrosis; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bone necrosis; osteonecrosis; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe chronic neutropenia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe chronic neutropenia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
x-linked severe combined immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease x-linked severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe rsv bronchiolitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe rsv bronchiolitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
outcome after severe injury Gene SetFrom GAD Gene-Disease Associations genes associated with the disease outcome after severe injury in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
femur head necrosis; pulmonary fibrosis; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease femur head necrosis; pulmonary fibrosis; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe sepsis after trauma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe sepsis after trauma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
immunologic deficiency syndromes; severe combined immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease immunologic deficiency syndromes; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe photoaging of facial skin Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe photoaging of facial skin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term severe in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Severe acute respiratory syndrome (SARS)_Peripheral blood mononuclear cell_GSE1739 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Severe acute respiratory syndrome (SARS)_Peripheral blood mononuclear cell_GSE1739 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
Treatment response for severe sepsis Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Treatment response for severe sepsis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Acne (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Acne (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Chronic obstructive pulmonary disease (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Chronic obstructive pulmonary disease (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Myopia (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Myopia (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Chronic obstructive pulmonary disease (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Chronic obstructive pulmonary disease (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Asthma (childhood, severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Asthma (childhood, severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
severe osteoporosis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe osteoporosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe platyspondyly Gene SetFrom HPO Gene-Disease Associations genes associated with the severe platyspondyly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe photosensitivity Gene SetFrom HPO Gene-Disease Associations genes associated with the severe photosensitivity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe hydrops fetalis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe hydrops fetalis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe carpal ossification delay Gene SetFrom HPO Gene-Disease Associations genes associated with the severe carpal ossification delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe lactic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe lactic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe t-cell immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the severe t-cell immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe combined immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the severe combined immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe recurrent varicella Gene SetFrom HPO Gene-Disease Associations genes associated with the severe recurrent varicella phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe visual impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the severe visual impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
intellectual disability, severe Gene SetFrom HPO Gene-Disease Associations genes associated with the intellectual disability, severe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe hydrocephalus Gene SetFrom HPO Gene-Disease Associations genes associated with the severe hydrocephalus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe failure to thrive Gene SetFrom HPO Gene-Disease Associations genes associated with the severe failure to thrive phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe b lymphocytopenia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe b lymphocytopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe intrauterine growth retardation Gene SetFrom HPO Gene-Disease Associations genes associated with the severe intrauterine growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe short-limb dwarfism Gene SetFrom HPO Gene-Disease Associations genes associated with the severe short-limb dwarfism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe hearing impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the severe hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe muscular hypotonia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe muscular hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe demyelination of the white matter Gene SetFrom HPO Gene-Disease Associations genes associated with the severe demyelination of the white matter phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe sensorineural hearing impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the severe sensorineural hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe t lymphocytopenia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe t lymphocytopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe myopia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe myopia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe limb shortening Gene SetFrom HPO Gene-Disease Associations genes associated with the severe limb shortening phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the severe short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe periodontitis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe periodontitis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe postnatal growth retardation Gene SetFrom HPO Gene-Disease Associations genes associated with the severe postnatal growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe global developmental delay Gene SetFrom HPO Gene-Disease Associations genes associated with the severe global developmental delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Severe Acute Respiratory Syndrome Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Severe Acute Respiratory Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Severe Combined Immunodeficiency Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Severe Combined Immunodeficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
mental retardation, severe, with spasticity and tapetoretinal degeneration Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, severe, with spasticity and tapetoretinal degeneration phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency due to il2 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
retinal dystrophy, early-onset severe Gene SetFrom OMIM Gene-Disease Associations genes associated with the retinal dystrophy, early-onset severe phenotype from the curated OMIM Gene-Disease Associations dataset. |
ulna and fibula, absence of, with severe limb deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ulna and fibula, absence of, with severe limb deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
insulin resistance, severe, digenic Gene SetFrom OMIM Gene-Disease Associations genes associated with the insulin resistance, severe, digenic phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 1, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 1, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, severe, susceptibility to, bmiq9} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, severe, susceptibility to, bmiq9} phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 3, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 3, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency due to ada deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, 6, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, 6, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
encephalopathy, neonatal severe Gene SetFrom OMIM Gene-Disease Associations genes associated with the encephalopathy, neonatal severe phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, severe, and type ii diabetes} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, severe, and type ii diabetes} phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, 5, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, 5, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
obesity, severe Gene SetFrom OMIM Gene-Disease Associations genes associated with the obesity, severe phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated OMIM Gene-Disease Associations dataset. |
{influenza, severe, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {influenza, severe, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, b cell-negative Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, b cell-negative phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, athabascan type Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, athabascan type phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 4, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
pulmonary disease, chronic obstructive, severe early-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the pulmonary disease, chronic obstructive, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene SetFrom OMIM Gene-Disease Associations genes associated with the alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type phenotype from the curated OMIM Gene-Disease Associations dataset. |
{malaria, severe, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {malaria, severe, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{malaria, severe, resistance to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {malaria, severe, resistance to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, reducing body, x-linked, severe early-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, reducing body, x-linked, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 2, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 2, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
Severe Acute Respiratory Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Acute Respiratory Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Visual Impairment Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Visual Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mental Disorders, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mental Disorders, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Combined Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hypoglycaemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hypoglycaemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Intellectual Disability Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Intellectual Disability in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Epstein Barr Virus Infection Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Epstein Barr Virus Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hereditary Factor Viii Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hereditary Factor Viii Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Sepsis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Sepsis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Sensorineural Hearing Impairment Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Sensorineural Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Myopia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Myopia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dementia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dementia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hypoxic Ischemic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hypoxic Ischemic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dengue Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dengue in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Depression Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Depression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Chronic Obstructive Pulmonary Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Chronic Obstructive Pulmonary Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Periodontitis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Periodontitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autism, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autism, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Acute Malnutrition Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Acute Malnutrition in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Aplastic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Aplastic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Intellectual Disability And Progressive Spastic Paraplegia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Intellectual Disability And Progressive Spastic Paraplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Congenital Microcephaly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Congenital Microcephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Expressive Language Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Expressive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mucopolysaccharidosis, Type Vi, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mucopolysaccharidosis, Type Vi, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Malnutrition Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Malnutrition in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Nonproliferative Diabetic Retinopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Nonproliferative Diabetic Retinopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Alpha Thalassemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Alpha Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Fever With Thrombocytopenia Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Fever With Thrombocytopenia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Alcohol Dependence Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Alcohol Dependence in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Bronchopulmonary Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Bronchopulmonary Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Persistent Asthma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Persistent Asthma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Acute Respiratory Infection Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Acute Respiratory Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Asthma With Fungal Sensitisation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Asthma With Fungal Sensitisation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Generalized Recessive Dystrophic Epidermolysis Bullosa Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Generalized Recessive Dystrophic Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Severe Refractory Exacerbation Of Asthma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Severe Refractory Exacerbation Of Asthma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Granulocytopenia Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Granulocytopenia Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Beta Thalassemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Beta Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Pediatric Obstructive Sleep Apnea Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Pediatric Obstructive Sleep Apnea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Varicella, Severe Recurrent Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Varicella, Severe Recurrent in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Major Depression With Psychotic Features Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Major Depression With Psychotic Features in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Athabaskan Severe Combined Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Athabaskan Severe Combined Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Recurrent Major Depression Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Recurrent Major Depression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Childhood Autosomal Recessive Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Childhood Autosomal Recessive Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe [Duchenne] Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe [Duchenne] Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dermatitis, Multiple Allergies, Metabolic Wasting Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dermatitis, Multiple Allergies, Metabolic Wasting Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Receptive Language Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Receptive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Reaction To Severe Stress, And Adjustment Disorders Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Reaction To Severe Stress, And Adjustment Disorders in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Copd, Severe Early-Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Copd, Severe Early-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Short-Limb Dwarfism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Short-Limb Dwarfism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe T-Cell Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe T-Cell Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Galactose Epimerase Deficiency, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Galactose Epimerase Deficiency, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Greig Cephalopolysyndactyly Syndrome, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Greig Cephalopolysyndactyly Syndrome, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dehydration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dehydration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Left Ventricular Systolic Dysfunction Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Left Ventricular Systolic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Costello Syndrome, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Costello Syndrome, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hunter'S Syndrome, Severe Form Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hunter'S Syndrome, Severe Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Growth Restriction, Severe, With Distinctive Facies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth Restriction, Severe, With Distinctive Facies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Opioid Use Disorder, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Opioid Use Disorder, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Early Childhood Onset Retinal Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Early Childhood Onset Retinal Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Laryngospasm, Severe Neonatal Episodic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Laryngospasm, Severe Neonatal Episodic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Global Developmental Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Global Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Muscular Hypotonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Muscular Hypotonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Diarrhea Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Diarrhea in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe B Lymphocytopenia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe B Lymphocytopenia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Psychomotor Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Psychomotor Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Dry Skin Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Dry Skin in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Congenital Neutropenia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Congenital Neutropenia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Cutaneous Adverse Reactions (Smq) Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Cutaneous Adverse Reactions (Smq) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Early Severe Fetal Akinesia Sequence Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Early Severe Fetal Akinesia Sequence in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Postnatal Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Postnatal Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Failure To Thrive Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Failure To Thrive in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Photosensitivity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Photosensitivity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Hearing Loss Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Hearing Loss in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Intrauterine Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Intrauterine Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Generalized Osteoporosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Generalized Osteoporosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Limb Shortening Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Limb Shortening in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Platyspondyly Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Platyspondyly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Headache Severe Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Headache Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Lactic Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Speech Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Speech Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Achondrodysplasia With Developmental Delay And Acanthosis Nigricans Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Achondrodysplasia With Developmental Delay And Acanthosis Nigricans in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Back Pain Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Back Pain in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Hydrocephalus Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Hydrocephalus in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Influenza, Severe, Susceptibility To Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Influenza, Severe, Susceptibility To in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Demyelination Of The White Matter Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Demyelination Of The White Matter in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Hydrops Fetalis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Hydrops Fetalis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Gastroesophageal Reflux Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Gastroesophageal Reflux in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Feeding Problems Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Feeding Problems in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Carpal Ossification Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Carpal Ossification Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe congenital neutropenia type 4 (G6PC3) Gene Setproteins participating in the Severe congenital neutropenia type 4 (G6PC3) pathway from the Reactome Pathways 2024 dataset. |
Severe combined immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe combined immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe congenital encephalopathy due to MECP2 mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Severe congenital neutropenia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe congenital neutropenia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease X-linked severe combined immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Severe combined immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe COVID-19 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe COVID-19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe acute respiratory syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe acute respiratory syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe pre-eclampsia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe pre-eclampsia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Intellectual disability-severe speech delay-mild dysmorphism syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-severe COVID-19 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-severe COVID-19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
adult-onset severe asthma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease adult-onset severe asthma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe nonproliferative diabetic retinopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe nonproliferative diabetic retinopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Persistent severe asthma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Persistent severe asthma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital encephalopathy due to MECP2 mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Susceptibility to severe coronavirus disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Susceptibility to severe coronavirus disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe hydrocephalus Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe hydrocephalus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early onset and severe retinal dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early onset and severe retinal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe neurodegenerative syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe neurodegenerative syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to DCLRE1C deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to DCLRE1C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Athabaskan severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Athabaskan severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe early-childhood-onset retinal dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe early-childhood-onset retinal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe global developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe global developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe X-linked myotubular myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal severe primary hyperparathyroidism Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal severe primary hyperparathyroidism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
T-B+ severe combined immunodeficiency due to JAK3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the T-B+ severe combined immunodeficiency due to JAK3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked severe congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe neonatal-onset encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe neonatal-onset encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
ZAP70-Related Severe Combined Immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the ZAP70-Related Severe Combined Immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe achondroplasia-developmental delay-acanthosis nigricans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe sensorineural hearing impairment Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe sensorineural hearing impairment phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability-severe speech delay-mild dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-progressive spastic diplegia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-progressive spastic diplegia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CARD11 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CARD11 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe X-linked mitochondrial encephalomyopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe X-linked mitochondrial encephalomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CTPS1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CTPS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe underweight in infancy childhood and adolescence Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe underweight in infancy childhood and adolescence phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to CSF3R deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe neurodevelopmental delay Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe neurodevelopmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CARMIL2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CARMIL2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Susceptibility to severe COVID- Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Susceptibility to severe COVID- phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intermediate severe Salla disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intermediate severe Salla disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to DNA-PKcs deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to DNA-PKcs deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CORO1A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CORO1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to IKK2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to IKK2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe dermatitis-multiple allergies-metabolic wasting syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe dermatitis-multiple allergies-metabolic wasting syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to LCK deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to LCK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe muscular hypotonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe muscular hypotonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to LAT deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to LAT deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
CV-A6-associated hand, foot, and mouth disease (severe vs mild) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the CV-A6-associated hand, foot, and mouth disease (severe vs mild) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe COVID-19 infection with respiratory failure (analysis I) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe COVID-19 infection with respiratory failure (analysis I) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe COVID-19 infection with respiratory failure (analysis II) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe COVID-19 infection with respiratory failure (analysis II) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Statin-induced myopathy (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Statin-induced myopathy (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pelvic organ prolapse (moderate/severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pelvic organ prolapse (moderate/severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe influenza A (H1N1) infection Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe influenza A (H1N1) infection phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe malaria Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe malaria phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic kidney disease (severe chronic kidney disease vs normal kidney function) in type 1 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic kidney disease (severe chronic kidney disease vs normal kidney function) in type 1 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe malaria (adjusted for sickle cell variant rs334) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe malaria (adjusted for sickle cell variant rs334) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Moderate or severe prolonged lymphopenia in dimethyl fumarate-treated relapsing-remitting multiple sclerosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Moderate or severe prolonged lymphopenia in dimethyl fumarate-treated relapsing-remitting multiple sclerosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe aplastic anemia Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe aplastic anemia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe aortic features in Marfan syndrome Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe aortic features in Marfan syndrome phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe skin toxicity response to cetuximab in colorectal cancer Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe skin toxicity response to cetuximab in colorectal cancer phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Asthma (moderate or severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Asthma (moderate or severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Acne (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Acne (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic obstructive pulmonary disease (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic obstructive pulmonary disease (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic obstructive pulmonary disease (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic obstructive pulmonary disease (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Osteoarthritis (hand, severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Osteoarthritis (hand, severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Myopia (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Myopia (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe mucosal involvement Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe mucosal involvement phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Asthma with severe exacerbations Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Asthma with severe exacerbations phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe diabetic retinopathy in type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe diabetic retinopathy in type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Hypospadias (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hypospadias (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Glucosuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Glucosuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Hematuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hematuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Proteinuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Proteinuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Ketonuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Ketonuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Childhood asthma with severe exacerbations Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Childhood asthma with severe exacerbations phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Treatment response for severe sepsis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Treatment response for severe sepsis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Adolescent idiopathic scoliosis (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Adolescent idiopathic scoliosis (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Response to mepolizumab in severe asthma Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Response to mepolizumab in severe asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Thiopurine-induced severe leukopenia in inflammatory bowel disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Thiopurine-induced severe leukopenia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Thiopurine-induced acute severe leukopenia in inflammatory bowel disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Thiopurine-induced acute severe leukopenia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Thiopurine-induced severe alopecia in inflammatory bowel disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Thiopurine-induced severe alopecia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Erosive tooth wear (severe vs none or mild) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Erosive tooth wear (severe vs none or mild) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe progression in rheumatoid arthritis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe progression in rheumatoid arthritis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe bacterial meningitis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe bacterial meningitis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe exacerbations in childhood asthma Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe exacerbations in childhood asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Moderate or severe diarrhoea in darapladib-treated cardiovascular disease (time to event) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Moderate or severe diarrhoea in darapladib-treated cardiovascular disease (time to event) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe gingival inflammation Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe gingival inflammation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe gastric atrophy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe gastric atrophy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe insulin-deficient type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe insulin-deficient type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe insulin-resistant type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe insulin-resistant type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe autoimmune type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe autoimmune type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Symptoms in placebo-treated COVID-19 outpatients at risk of severe disease (time to remission) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Symptoms in placebo-treated COVID-19 outpatients at risk of severe disease (time to remission) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe coronary stenosis (young age of onset interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe coronary stenosis (young age of onset interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Epilepsy, partial, with variable foci Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, partial, with variable foci phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal dominant nocturnal frontal lobe epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal dominant nocturnal frontal lobe epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, nocturnal frontal lobe, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, nocturnal frontal lobe, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Generalized epilepsy with febrile seizures plus 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Generalized epilepsy with febrile seizures plus 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyridoxal 5'-phosphate-dependent epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyridoxal 5'-phosphate-dependent epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked rolandic epilepsy with mental retardation and speech dyspraxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked rolandic epilepsy with mental retardation and speech dyspraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
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. |
Epilepsy, X-linked, with variable learning disabilities and behavior disorders Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, X-linked, with variable learning disabilities and behavior disorders phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
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. |
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Generalized epilepsy with febrile seizures plus, type 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Generalized epilepsy with febrile seizures plus, type 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Generalized epilepsy with febrile seizures plus, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Generalized epilepsy with febrile seizures plus, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Generalized epilepsy with febrile seizures plus, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Generalized epilepsy with febrile seizures plus, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Focal epilepsy with speech disorder with or without mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Focal epilepsy with speech disorder with or without mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, lateral temporal lobe, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, lateral temporal lobe, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortical dysplasia-focal epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortical dysplasia-focal epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Generalized epilepsy and paroxysmal dyskinesia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Generalized epilepsy and paroxysmal dyskinesia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Psychomotor retardation, epilepsy, and craniofacial dysmorphism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Psychomotor retardation, epilepsy, and craniofacial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyridoxine-dependent epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyridoxine-dependent epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, nocturnal frontal lobe, type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, nocturnal frontal lobe, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, nocturnal frontal lobe, type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, nocturnal frontal lobe, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, nocturnal frontal lobe, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, nocturnal frontal lobe, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, Generalized Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Generalized from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp from the curated CTD Gene-Disease Associations dataset. |
Generalized Epilepsy With Febrile Seizures Plus, Type 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Generalized Epilepsy With Febrile Seizures Plus, Type 6 from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Frontal Lobe Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Frontal Lobe from the curated CTD Gene-Disease Associations dataset. |
Epilepsy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Idiopathic Generalized Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Idiopathic Generalized from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Female-Restricted, with Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Female-Restricted, with Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Cortical Dysplasia-Focal Epilepsy Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cortical Dysplasia-Focal Epilepsy Syndrome from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Rolandic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Rolandic from the curated CTD Gene-Disease Associations dataset. |
Generalized Epilepsy and Paroxysmal Dyskinesia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Generalized Epilepsy and Paroxysmal Dyskinesia from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, with Epilepsy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, with Epilepsy from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Tonic-Clonic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Tonic-Clonic from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, FAMILIAL TEMPORAL LOBE, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, FAMILIAL TEMPORAL LOBE, 3 from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, FAMILIAL TEMPORAL LOBE, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, FAMILIAL TEMPORAL LOBE, 2 from the curated CTD Gene-Disease Associations dataset. |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Generalized Epilepsy With Febrile Seizures Plus, Type 1 from the curated CTD Gene-Disease Associations dataset. |
Generalized Epilepsy With Febrile Seizures Plus, Type 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Generalized Epilepsy With Febrile Seizures Plus, Type 3 from the curated CTD Gene-Disease Associations dataset. |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Generalized Epilepsy With Febrile Seizures Plus, Type 4 from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Temporal Lobe Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Temporal Lobe from the curated CTD Gene-Disease Associations dataset. |
Hyperekplexia and Epilepsy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperekplexia and Epilepsy from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Partial, with Variable Foci Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Partial, with Variable Foci from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, HOT WATER, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, HOT WATER, 1 from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Benign Neonatal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Benign Neonatal from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Benign Neonatal, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Benign Neonatal, 3 from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, HOT WATER, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, HOT WATER, 2 from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Complex Partial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Complex Partial from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Absence Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Absence from the curated CTD Gene-Disease Associations dataset. |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Nocturnal Frontal Lobe, Type 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Nocturnal Frontal Lobe, Type 4 from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Nocturnal Frontal Lobe, Type 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Nocturnal Frontal Lobe, Type 2 from the curated CTD Gene-Disease Associations dataset. |
Pyridoxine-dependent epilepsy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyridoxine-dependent epilepsy from the curated CTD Gene-Disease Associations dataset. |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Generalized Epilepsy With Febrile Seizures Plus, Type 2 from the curated CTD Gene-Disease Associations dataset. |
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Familial Temporal Lobe, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Familial Temporal Lobe, 4 from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Nocturnal Frontal Lobe, Type 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Nocturnal Frontal Lobe, Type 3 from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Nocturnal Frontal Lobe, Type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Nocturnal Frontal Lobe, Type 1 from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Partial, with Pericentral Spikes Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Partial, with Pericentral Spikes from the curated CTD Gene-Disease Associations dataset. |
Epilepsy Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Epilepsy in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations 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. |
epilepsy syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease epilepsy syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
epilepsy syndrome Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease epilepsy syndrome in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
juvenile absence epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease juvenile absence epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
complex partial epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease complex partial epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
visual epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease visual epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
epilepsy syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease epilepsy syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
extratemporal epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease extratemporal epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
epilepsy with generalized tonic-clonic seizures Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease epilepsy with generalized tonic-clonic seizures in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
idiopathic generalized epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease idiopathic generalized epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
generalized epilepsy with febrile seizures plus Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease generalized epilepsy with febrile seizures plus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
temporal lobe epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease temporal lobe epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
benign epilepsy with centrotemporal spikes Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease benign epilepsy with centrotemporal spikes in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
benign familial neonatal epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease benign familial neonatal epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
partial motor epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease partial motor epilepsy 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. |
childhood absence epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease childhood absence epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
focal epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease focal epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
early onset absence epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease early onset absence epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
epilepsy; fragile x syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; fragile x syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; anticoagulant complications Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; anticoagulant complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
drug toxicity; epilepsy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease drug toxicity; epilepsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; migraine disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; migraine disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; malnutrition Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; malnutrition in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, temporal lobe; seizures, febrile Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, temporal lobe; seizures, febrile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
drug eruptions; drug hypersensitivity; epilepsy; stevens-johnson syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease drug eruptions; drug hypersensitivity; epilepsy; stevens-johnson syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; stevens-johnson syndrome; urticaria pigmentosa Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; stevens-johnson syndrome; urticaria pigmentosa in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; rett syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; rett syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, tonic-clonic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, tonic-clonic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, generalized Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, generalized in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, temporal lobe Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, temporal lobe in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsies, partial; epilepsy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsies, partial; epilepsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, post-traumatic; seizures Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, post-traumatic; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, temporal lobe; sclerosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, temporal lobe; sclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
childhood absence epilepsy. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease childhood absence epilepsy. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, temporal lobe; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, temporal lobe; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chromosome deletion; epilepsy, generalized; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome deletion; epilepsy, generalized; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, temporal lobe; sclerosis; seizures, febrile Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, temporal lobe; sclerosis; seizures, febrile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
drug toxicity; epidermal necrolysis, toxic; epilepsy; stevens-johnson syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease drug toxicity; epidermal necrolysis, toxic; epilepsy; stevens-johnson syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, drug-induced; epilepsy; prenatal exposure delayed effects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, drug-induced; epilepsy; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
idiopathic epilepsy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease idiopathic epilepsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, temporal lobe; memory disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, temporal lobe; memory disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy and mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy and mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
temporal lobe epilepsy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease temporal lobe epilepsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, complex partial Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, complex partial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brain injuries; epilepsy, post-traumatic; seizures Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brain injuries; epilepsy, post-traumatic; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cysts; epilepsy; tuberous sclerosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cysts; epilepsy; tuberous sclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; hyperhomocysteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; hyperhomocysteinemia; recurrence; substance withdrawal syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; hyperhomocysteinemia; recurrence; substance withdrawal syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
confusion; epilepsy, temporal lobe; sclerosis; seizures Gene SetFrom GAD Gene-Disease Associations genes associated with the disease confusion; epilepsy, temporal lobe; sclerosis; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, generalized; seizures, febrile Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, generalized; seizures, febrile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; hyperammonemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; hyperammonemia 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. |
drug-induced liver injury; epilepsy; hepatitis, toxic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease drug-induced liver injury; epilepsy; hepatitis, toxic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
nocturnal frontal lobe epilepsy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease nocturnal frontal lobe epilepsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
confusion; epilepsy, temporal lobe Gene SetFrom GAD Gene-Disease Associations genes associated with the disease confusion; epilepsy, temporal lobe in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; neurotoxicity syndromes Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; neurotoxicity syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
generalized epilepsy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease generalized epilepsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; neurocysticercosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; neurocysticercosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, idiopathic generalized Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, idiopathic generalized in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; seizures, febrile Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; seizures, febrile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atrophy; epilepsy; hyperhomocysteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atrophy; epilepsy; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, frontal lobe Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, frontal lobe in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsies, partial; epilepsy, generalized; seizures, febrile Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsies, partial; epilepsy, generalized; seizures, febrile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; seizures; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; seizures; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, frontal lobe; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, frontal lobe; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
schizophrenia; epilepsy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease schizophrenia; epilepsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term epilepsy in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Epilepsy (generalized) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Epilepsy (generalized) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Epilepsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Epilepsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Epilepsy (remission after treatment) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Epilepsy (remission after treatment) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
focal epilepsy Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease focal epilepsy in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
temporal lobe epilepsy Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease temporal lobe epilepsy in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
epilepsy syndrome Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease epilepsy syndrome in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
Epilepsy, Generalized Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epilepsy, Generalized phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Epilepsy, Frontal Lobe Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epilepsy, Frontal Lobe phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Epilepsy Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epilepsy phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Epilepsy, Reflex Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epilepsy, Reflex phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Epilepsy, Rolandic Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epilepsy, Rolandic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Epilepsy, Tonic-Clonic Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epilepsy, Tonic-Clonic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Epilepsy, Post-Traumatic Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epilepsy, Post-Traumatic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Epilepsy, Temporal Lobe Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epilepsy, Temporal Lobe phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Epilepsy, Benign Neonatal Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epilepsy, Benign Neonatal phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Epilepsy, Complex Partial Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epilepsy, Complex Partial phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Epilepsy, Absence Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epilepsy, Absence phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
epilepsy, familial focal, with variable foci Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, familial focal, with variable foci phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, idiopathic generalized, susceptibility to, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, idiopathic generalized, susceptibility to, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?rolandic epilepsy, mental retardation, and speech dyspraxia Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?rolandic epilepsy, mental retardation, and speech dyspraxia phenotype from the curated OMIM Gene-Disease Associations dataset. |
polyhydramnios, megalencephaly, and symptomatic epilepsy Gene SetFrom OMIM Gene-Disease Associations genes associated with the polyhydramnios, megalencephaly, and symptomatic epilepsy phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, idiopathic generalized, 10} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, idiopathic generalized, 10} phenotype from the curated OMIM Gene-Disease Associations dataset. |
generalized epilepsy and paroxysmal dyskinesia Gene SetFrom OMIM Gene-Disease Associations genes associated with the generalized epilepsy and paroxysmal dyskinesia phenotype from the curated OMIM Gene-Disease Associations dataset. |