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Rigidity and multifocal seizure syndrome, lethal neonatal Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
rigidity and multifocal seizure syndrome, lethal neonatal Gene SetFrom OMIM Gene-Disease Associations genes associated with the rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated OMIM Gene-Disease Associations dataset. |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Finnish lethal neonatal metabolic syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Finnish lethal neonatal metabolic syndrome from the curated CTD Gene-Disease Associations dataset. |
Neonatal seizure Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal seizure phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal from the curated CTD Gene-Disease Associations dataset. |
cpt ii deficiency, lethal neonatal Gene SetFrom OMIM Gene-Disease Associations genes associated with the cpt ii deficiency, lethal neonatal phenotype from the curated OMIM Gene-Disease Associations dataset. |
encephalitis; glucosephosphate dehydrogenase deficiency; jaundice, neonatal; neonatal jaundice Gene SetFrom GAD Gene-Disease Associations genes associated with the disease encephalitis; glucosephosphate dehydrogenase deficiency; jaundice, neonatal; neonatal jaundice in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
jaundice, neonatal; neonatal jaundice Gene SetFrom GAD Gene-Disease Associations genes associated with the disease jaundice, neonatal; neonatal jaundice in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glucosephosphate dehydrogenase deficiency; hemolysis; jaundice, neonatal; neonatal jaundice Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glucosephosphate dehydrogenase deficiency; hemolysis; jaundice, neonatal; neonatal jaundice in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS from the curated CTD Gene-Disease Associations dataset. |
Uni- And Bilateral Multifocal Epileptiform Discharges Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Uni- And Bilateral Multifocal Epileptiform Discharges in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
alcohol withdrawl seizure and delirium tremens Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alcohol withdrawl seizure and delirium tremens in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Light Fixation Seizure Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Light Fixation Seizure Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Folinic Acid Responsive Seizure Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Folinic Acid Responsive Seizure Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
PUM1-associated developmental disability-ataxia-seizure syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PUM1-associated developmental disability-ataxia-seizure syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Muscle Rigidity Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscle Rigidity from the curated CTD Gene-Disease Associations dataset. |
rigidity Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term rigidity in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
spinal rigidity Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the spinal rigidity phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
extrapyramidal muscular rigidity Gene SetFrom HPO Gene-Disease Associations genes associated with the extrapyramidal muscular rigidity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
spinal rigidity Gene SetFrom HPO Gene-Disease Associations genes associated with the spinal rigidity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cogwheel rigidity Gene SetFrom HPO Gene-Disease Associations genes associated with the cogwheel rigidity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
rigidity Gene SetFrom HPO Gene-Disease Associations genes associated with the rigidity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Muscle Rigidity Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Muscle Rigidity phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Progressive Encephalomyelitis With Rigidity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Encephalomyelitis With Rigidity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Muscle Rigidity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Muscle Rigidity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Spinal Rigidity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Spinal Rigidity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Cogwheel Rigidity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cogwheel Rigidity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Extrapyramidal Muscular Rigidity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Extrapyramidal Muscular Rigidity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Catatonic Rigidity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Catatonic Rigidity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Extensor Rigidity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Extensor Rigidity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Extrapyramidal Rigidity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Extrapyramidal Rigidity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Nuchal Rigidity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Nuchal Rigidity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Extrapyramidal Muscular Rigidity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Extrapyramidal Muscular Rigidity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Rigidity Of Limbs Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Rigidity Of Limbs in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Rigidity Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Rigidity phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cogwheel rigidity Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cogwheel rigidity phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene SetFrom GAD Gene-Disease Associations genes associated with the disease resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Lethal multiple pterygium syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal multiple pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contracture syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contracture syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Popliteal pterygium syndrome lethal type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Popliteal pterygium syndrome lethal type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contractural syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contractural syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contracture syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contracture syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tight skin contracture syndrome, lethal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Tight skin contracture syndrome, lethal from the curated CTD Gene-Disease Associations dataset. |
Lethal Congenital Contracture Syndrome 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lethal Congenital Contracture Syndrome 2 from the curated CTD Gene-Disease Associations dataset. |
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE from the curated CTD Gene-Disease Associations dataset. |
Lethal congenital contracture syndrome 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lethal congenital contracture syndrome 1 from the curated CTD Gene-Disease Associations dataset. |
Lethal Congenital Contractural Syndrome 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lethal Congenital Contractural Syndrome 3 from the curated CTD Gene-Disease Associations dataset. |
popliteal pterygium syndrome 2, lethal type Gene SetFrom OMIM Gene-Disease Associations genes associated with the popliteal pterygium syndrome 2, lethal type phenotype from the curated OMIM Gene-Disease Associations dataset. |
multiple pterygium syndrome, lethal type Gene SetFrom OMIM Gene-Disease Associations genes associated with the multiple pterygium syndrome, lethal type phenotype from the curated OMIM Gene-Disease Associations dataset. |
lethal congenital contracture syndrome 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the lethal congenital contracture syndrome 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
lethal congenital contracture syndrome 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the lethal congenital contracture syndrome 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
lethal congenital contracture syndrome 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the lethal congenital contracture syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
lethal congenital contractural syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the lethal congenital contractural syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
lethal congenital contractural syndrome 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the lethal congenital contractural syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Lethal Congenital Contractural Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lethal Congenital Contractural Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multiple Pterygium Syndrome, Lethal Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multiple Pterygium Syndrome, Lethal Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lethal Congenital Contracture Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lethal Congenital Contracture Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lethal Tight Skin Contracture Syndrome (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lethal Tight Skin Contracture Syndrome (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lethal congenital contracture syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Lethal congenital contracture syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Lethal congenital contracture syndrome 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Lethal congenital contracture syndrome 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Lethal congenital contracture syndrome 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Lethal congenital contracture syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Lethal congenital contracture syndrome 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Lethal congenital contracture syndrome 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Lethal congenital contracture syndrome 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Lethal congenital contracture syndrome 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Lethal tight skin contracture syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lethal tight skin contracture syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lethal congenital contracture syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lethal congenital contracture syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lethal arthrogryposis-anterior horn cell disease syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lethal arthrogryposis-anterior horn cell disease syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lethal congenital contractural syndrome Finnish Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lethal congenital contractural syndrome Finnish phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lethal multiple pterygium syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lethal multiple pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lethal Kniest-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lethal Kniest-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lethal polymalformative syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lethal polymalformative syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lethal occipital encephalocele-skeletal dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lethal occipital encephalocele-skeletal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Leukoencephalopathy, Progressive Multifocal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leukoencephalopathy, Progressive Multifocal from the curated CTD Gene-Disease Associations dataset. |
multifocal osteogenic sarcoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease multifocal osteogenic sarcoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
progressive multifocal leukoencephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease progressive multifocal leukoencephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
synchronous multifocal osteogenic sarcoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease synchronous multifocal osteogenic sarcoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
multifocal Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term multifocal in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
multifocal cerebral white matter abnormalities Gene SetFrom HPO Gene-Disease Associations genes associated with the multifocal cerebral white matter abnormalities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
multifocal hepatic necrosis Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the multifocal hepatic necrosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
Best Vitelliform Macular Dystrophy, Multifocal (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Best Vitelliform Macular Dystrophy, Multifocal (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chronic Multifocal Osteomyelitis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Multifocal Osteomyelitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multifocal Breast Carcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multifocal Breast Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multifocal Motor Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multifocal Motor Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multifocal Choroiditis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multifocal Choroiditis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multifocal Micronodular Pneumocyte Hyperplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multifocal Micronodular Pneumocyte Hyperplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cryptogenic Multifocal Ulcerous Stenosing Enteritis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cryptogenic Multifocal Ulcerous Stenosing Enteritis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Posterior Multifocal Placoid Pigment Epitheliopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Posterior Multifocal Placoid Pigment Epitheliopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multifocal Pattern Dystrophy Of Retinal Pigment Epithelium Simulating Fundus Flavimaculatus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multifocal Pattern Dystrophy Of Retinal Pigment Epithelium Simulating Fundus Flavimaculatus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multifocal Osteosarcoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multifocal Osteosarcoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Eeg With Multifocal Slow Activity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Eeg With Multifocal Slow Activity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Multifocal Epileptiform Discharges Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Multifocal Epileptiform Discharges in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Multifocal Cerebral White Matter Abnormalities Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Multifocal Cerebral White Matter Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Multifocal Seizures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Multifocal Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormal Multifocal Electroretinogram Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Multifocal Electroretinogram in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
multifocal hepatic necrosis Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the multifocal hepatic necrosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Chronic recurrent multifocal osteomyelitis Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Chronic recurrent multifocal osteomyelitis from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Multifocal dystonia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Multifocal dystonia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Multifocal dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Multifocal dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Chronic recurrent multifocal osteomyelitis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Chronic recurrent multifocal osteomyelitis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Progressive multifocal leukoencephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Progressive multifocal leukoencephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Multifocal osteogenic sarcoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Multifocal osteogenic sarcoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Sterile multifocal osteomyelitis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Sterile multifocal osteomyelitis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pharmacoresistant multifocal epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pharmacoresistant multifocal epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Multifocal pattern dystrophy simulating fundus flavimaculatus Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Multifocal pattern dystrophy simulating fundus flavimaculatus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Multifocal breast carcinoma Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Multifocal breast carcinoma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
seizure Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term seizure in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
abnormal seizure response to electrical stimulation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal seizure response to electrical stimulation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
decreased susceptibility to induction of seizure by inducing agent Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the decreased susceptibility to induction of seizure by inducing agent phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal seizure response to pharmacological agent Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal seizure response to pharmacological agent phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal seizure response to inducing agent Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal seizure response to inducing agent phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
increased susceptibility to induction of seizure by inducing agent Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the increased susceptibility to induction of seizure by inducing agent phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
Jacksonian Seizure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Jacksonian Seizure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Single Seizure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Single Seizure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Visual Seizure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Visual Seizure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Complex Partial Seizure With Impairment Of Consciousness Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Complex Partial Seizure With Impairment Of Consciousness in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Afebrile Seizure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Afebrile Seizure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Recurrent Seizure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Recurrent Seizure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Seizure, Febrile, Complex Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Seizure, Febrile, Complex in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Seizure, Febrile, Simple Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Seizure, Febrile, Simple in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Absence Seizure Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Absence Seizure Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Generalized Nonconvulsive Seizure Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Generalized Nonconvulsive Seizure Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Atypical Absence Seizure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Atypical Absence Seizure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cerebral Seizure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cerebral Seizure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Focal Sensory Seizure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Focal Sensory Seizure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Subclinical Seizure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Subclinical Seizure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Prolonged Epileptic Seizure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Prolonged Epileptic Seizure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Post Stroke Seizure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Post Stroke Seizure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Gustatory Seizure Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Gustatory Seizure in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Olfactory Seizure Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Olfactory Seizure in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Vertiginous Seizure Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Vertiginous Seizure in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Psychogenic Seizure Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Psychogenic Seizure in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Focal Sensory Auditory Seizure Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Focal Sensory Auditory Seizure in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Acute Repetitive Seizure Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Acute Repetitive Seizure in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Alcohol Withdrawal-Induced Major Motor Seizure Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Alcohol Withdrawal-Induced Major Motor Seizure in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
abnormal seizure response to pharmacological agent Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal seizure response to pharmacological agent phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal seizure response to electrical stimulation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal seizure response to electrical stimulation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal seizure response to inducing agent Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal seizure response to inducing agent phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased susceptibility to induction of seizure by inducing agent Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased susceptibility to induction of seizure by inducing agent phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased susceptibility to induction of seizure by inducing agent Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased susceptibility to induction of seizure by inducing agent phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Absence seizure Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Absence seizure phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Seizure Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Seizure phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Focal-onset seizure Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Focal-onset seizure phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Generalized-onset seizure Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Generalized-onset seizure phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SCN1A Seizure Disorders Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SCN1A Seizure Disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Focal impaired awareness seizure Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Focal impaired awareness seizure 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. |
Intractable seizure Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intractable seizure phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Febrile seizure Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Febrile seizure phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Typical absence seizure Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Typical absence 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. |
KCND1-associated seizure disorder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the KCND1-associated seizure disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Inflammatory skin and bowel disease, neonatal, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inflammatory skin and bowel disease, neonatal, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inflammatory skin and bowel disease, neonatal Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inflammatory skin and bowel disease, neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress from the curated CTD Gene-Disease Associations dataset. |
acute neonatal disease and hyperammonemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acute neonatal disease and hyperammonemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neonatal wrinkled skin of hands and feet Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal wrinkled skin of hands and feet phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
?inflammatory skin and bowel disease, neonatal, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?inflammatory skin and bowel disease, neonatal, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?inflammatory skin and bowel disease, neonatal, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?inflammatory skin and bowel disease, neonatal, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
anemia, neonatal hemolytic, fatal and near-fatal Gene SetFrom OMIM Gene-Disease Associations genes associated with the anemia, neonatal hemolytic, fatal and near-fatal phenotype from the curated OMIM Gene-Disease Associations dataset. |
choreoathetosis, hypothyroidism, and neonatal respiratory distress Gene SetFrom OMIM Gene-Disease Associations genes associated with the choreoathetosis, hypothyroidism, and neonatal respiratory distress phenotype from the curated OMIM Gene-Disease Associations dataset. |
Developmental Delay, Epilepsy, And Neonatal Diabetes Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Developmental Delay, Epilepsy, And Neonatal Diabetes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Inflammatory Skin And Bowel Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Inflammatory Skin And Bowel Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Wrinkled Skin Of Hands And Feet Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Wrinkled Skin Of Hands And Feet in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Fetal and neonatal alloimmune thrombocytopenia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Fetal and neonatal alloimmune thrombocytopenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal inflammatory skin and bowel disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal inflammatory skin and bowel disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal Abstinence Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neonatal Abstinence Syndrome from the curated CTD Gene-Disease Associations dataset. |
neonatal period electroclinical syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease neonatal period electroclinical syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
neonatal period electroclinical syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease neonatal period electroclinical syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
neonatal abstinence syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease neonatal abstinence syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
bronchopulmonary dysplasia; respiratory distress syndrome, neonatal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia; respiratory distress syndrome, neonatal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
respiratory distress syndrome, neonatal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease respiratory distress syndrome, neonatal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Neonatal Abstinence Syndrome Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Neonatal Abstinence Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Neonatal Abstinence Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Abstinence Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Opiate Withdrawal Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Opiate Withdrawal Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Marfan Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Marfan Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Maladjustment Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Maladjustment Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal period electroclinical syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Neonatal period electroclinical syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Neonatal period electroclinical syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neonatal period electroclinical syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neonatal abstinence syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neonatal abstinence syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 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. |
Neonatal Marfan syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal Marfan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal pseudo-hydrocephalic progeroid syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal pseudo-hydrocephalic progeroid syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 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. |
Neonatal ichthyosis-sclerosing cholangitis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal ichthyosis-sclerosing cholangitis 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. |
digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Osteogenesis imperfecta, recessive perinatal lethal Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteogenesis imperfecta, recessive perinatal lethal phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amish lethal microcephaly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amish lethal microcephaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gaucher disease, perinatal lethal Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gaucher disease, perinatal lethal phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal arthrogryposis with anterior horn cell disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal arthrogryposis with anterior horn cell disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epidermolysis bullosa, lethal acantholytic Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epidermolysis bullosa, lethal acantholytic phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Clostridium difficile lethal toxin B Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Clostridium difficile lethal toxin B from the curated CTD Gene-Chemical Interactions dataset. |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Platyspondylic Lethal Skeletal Dysplasia, Torrance Type from the curated CTD Gene-Disease Associations dataset. |
Amish lethal microcephaly Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Amish lethal microcephaly from the curated CTD Gene-Disease Associations dataset. |
Epidermolysis bullosa, lethal acantholytic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis bullosa, lethal acantholytic from the curated CTD Gene-Disease Associations dataset. |
Glycogen Storage Disease of Heart, Lethal Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glycogen Storage Disease of Heart, Lethal Congenital from the curated CTD Gene-Disease Associations dataset. |
Gaucher Disease, Perinatal Lethal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Gaucher Disease, Perinatal Lethal from the curated CTD Gene-Disease Associations dataset. |
Lethal Arthrogryposis With Anterior Horn Cell Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lethal Arthrogryposis With Anterior Horn Cell Disease from the curated CTD Gene-Disease Associations dataset. |
lethal midline granuloma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease lethal midline granuloma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
lethal Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term lethal in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
lethal skeletal dysplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the lethal skeletal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
lethal short-limbed short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the lethal short-limbed short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Granuloma, Lethal Midline Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Granuloma, Lethal Midline phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Lethal giant larvae (Lgl)-like, C-terminal domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Lethal giant larvae (Lgl)-like, C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Lethal(2) giant larvae protein Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Lethal(2) giant larvae protein protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Lethal giant larvae homologue 2 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Lethal giant larvae homologue 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Protein male-specific lethal-1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Protein male-specific lethal-1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
encephalopahty, lethal, due to defective mitochondrial peroxisomal fission Gene SetFrom OMIM Gene-Disease Associations genes associated with the encephalopahty, lethal, due to defective mitochondrial peroxisomal fission phenotype from the curated OMIM Gene-Disease Associations dataset. |
arthrogryposis, lethal, with anterior horn cell disease Gene SetFrom OMIM Gene-Disease Associations genes associated with the arthrogryposis, lethal, with anterior horn cell disease phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermolysis bullosa, lethal acantholytic Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa, lethal acantholytic phenotype from the curated OMIM Gene-Disease Associations dataset. |
glycogen storage disease of heart, lethal congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the glycogen storage disease of heart, lethal congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
gaucher disease, perinatal lethal Gene SetFrom OMIM Gene-Disease Associations genes associated with the gaucher disease, perinatal lethal phenotype from the curated OMIM Gene-Disease Associations dataset. |
restrictive dermopathy, lethal Gene SetFrom OMIM Gene-Disease Associations genes associated with the restrictive dermopathy, lethal phenotype from the curated OMIM Gene-Disease Associations dataset. |
Lethal Skeletal Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lethal Skeletal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Platyspondylic Lethal Skeletal Dysplasia, Torrance Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lethal Short-Limbed Short Stature Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lethal Short-Limbed Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Gaucher Disease, Perinatal Lethal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Gaucher Disease, Perinatal Lethal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lethal Arthrogryposis With Anterior Horn Cell Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lethal Arthrogryposis With Anterior Horn Cell Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lethal midline granuloma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Lethal midline granuloma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Lethal congenital glycogen storage disease of heart Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Lethal congenital glycogen storage disease of heart in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Gaucher's disease perinatal lethal Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Gaucher's disease perinatal lethal in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Lethal short-limb skeletal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lethal short-limb skeletal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Gaucher disease perinatal lethal Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Gaucher disease perinatal lethal phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lethal skeletal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lethal skeletal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lethal congenital glycogen storage disease of heart Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lethal congenital glycogen storage disease of heart phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Perinatal lethal hypophosphatasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Perinatal lethal hypophosphatasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lethal acantholytic epidermolysis bullosa Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lethal acantholytic epidermolysis bullosa phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Amish lethal microcephaly Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Amish lethal microcephaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lethal osteosclerotic bone dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lethal osteosclerotic bone dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lethal Encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lethal Encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Complex lethal osteochondrodysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Complex lethal osteochondrodysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
NEK9-related lethal skeletal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the NEK9-related lethal skeletal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds Gene Setproteins participating in the Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways dataset. |
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Noonan syndrome and Noonan-related syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Noonan syndrome and Noonan-related syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Transient neonatal diabetes mellitus 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Transient neonatal diabetes mellitus 1 phenotype from the curated ClinVar Gene-Phenotype Associations 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. |
Neonatal insulin-dependent diabetes mellitus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neonatal insulin-dependent diabetes mellitus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Benign familial neonatal seizures 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Benign familial neonatal seizures 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Benign familial neonatal seizures 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Benign familial neonatal seizures 2 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. |
Diabetes mellitus, permanent neonatal, with neurologic features Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diabetes mellitus, permanent neonatal, with neurologic features phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neonatal adrenoleucodystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neonatal adrenoleucodystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Permanent neonatal diabetes mellitus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Permanent neonatal diabetes mellitus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neonatal intrahepatic cholestasis caused by citrin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neonatal intrahepatic cholestasis caused by citrin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diabetes mellitus, permanent neonatal, with cerebellar agenesis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diabetes mellitus, permanent neonatal, with cerebellar agenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cyanosis, transient neonatal Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cyanosis, transient neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neonatal diabetes mellitus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neonatal diabetes mellitus phenotype from the curated ClinVar Gene-Phenotype 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. |
Neonatal-onset citrullinemia type 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neonatal-onset citrullinemia type 2 from the curated CTD Gene-Disease Associations dataset. |
Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis from the curated CTD Gene-Disease Associations dataset. |
Jaundice, Neonatal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Jaundice, Neonatal from the curated CTD Gene-Disease Associations dataset. |
SEIZURES, BENIGN FAMILIAL NEONATAL, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SEIZURES, BENIGN FAMILIAL NEONATAL, 2 from the curated CTD Gene-Disease Associations dataset. |
Diabetes Mellitus, Transient Neonatal, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diabetes Mellitus, Transient Neonatal, 3 from the curated CTD Gene-Disease Associations dataset. |
Diabetes Mellitus, Transient Neonatal, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diabetes Mellitus, Transient Neonatal, 1 from the curated CTD Gene-Disease Associations dataset. |
Diabetes Mellitus, Transient Neonatal, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diabetes Mellitus, Transient Neonatal, 2 from the curated CTD Gene-Disease Associations dataset. |
Pancreatic beta cell agenesis with neonatal diabetes mellitus Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pancreatic beta cell agenesis with neonatal diabetes mellitus from the curated CTD Gene-Disease Associations dataset. |
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism from the curated CTD Gene-Disease Associations dataset. |
Hyperbilirubinemia, Transient Familial Neonatal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperbilirubinemia, Transient Familial Neonatal 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. |
Diabetes Mellitus, Permanent Neonatal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diabetes Mellitus, Permanent Neonatal 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, 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. |
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SEIZURES, BENIGN FAMILIAL NEONATAL, 1 from the curated CTD Gene-Disease Associations dataset. |
Anemia, Neonatal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Neonatal from the curated CTD Gene-Disease Associations dataset. |
Thrombocytopenia, Neonatal Alloimmune Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thrombocytopenia, Neonatal Alloimmune from the curated CTD Gene-Disease Associations dataset. |
neonatal candidiasis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease neonatal candidiasis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
neonatal anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease neonatal anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
benign neonatal seizures Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease benign neonatal seizures in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
neonatal leukemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease neonatal leukemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
neonatal diabetes mellitus Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease neonatal diabetes mellitus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
transient neonatal neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease transient neonatal neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
neonatal jaundice Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease neonatal jaundice 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. |
neonatal thyrotoxicosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease neonatal thyrotoxicosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
neonatal myasthenia gravis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease neonatal myasthenia gravis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
neonatal respiratory failure Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease neonatal respiratory failure in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
transient neonatal thrombocytopenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease transient neonatal thrombocytopenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
glucosephosphate dehydrogenase deficiency; hyperbilirubinemia, neonatal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glucosephosphate dehydrogenase deficiency; hyperbilirubinemia, neonatal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; hyperbilirubinemia, neonatal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; hyperbilirubinemia, neonatal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperbilirubinemia, neonatal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperbilirubinemia, neonatal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neonatal thrombocytopenia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neonatal thrombocytopenia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
citrullinemia, adult-onset type ii; hepatitis, neonatal associated with cholestasis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease citrullinemia, adult-onset type ii; hepatitis, neonatal associated with cholestasis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neonatal infection Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neonatal infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neonatal hyperbilirubinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neonatal hyperbilirubinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperbilirubinemia, neonatal; jaundice Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperbilirubinemia, neonatal; jaundice in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cutaneous neonatal lupus Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cutaneous neonatal lupus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
jaundice, neonatal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease jaundice, neonatal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neonatal sepsis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neonatal sepsis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neonatal Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term neonatal in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
KDM4C_natural variation_GSE41040_589_human_fibroblasts fron neonatal foreskin Gene SetFrom GEO Signatures of Differentially Expressed Genes for Gene Perturbations genes differentially expressed following the KDM4C_natural variation_GSE41040_589_human_fibroblasts fron neonatal foreskin gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. |
KDM4C_natural variation_GSE41040_588_human_fibroblasts fron neonatal foreskin Gene SetFrom GEO Signatures of Differentially Expressed Genes for Gene Perturbations genes differentially expressed following the KDM4C_natural variation_GSE41040_588_human_fibroblasts fron neonatal foreskin gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. |
KDM4C_natural variation_GSE41040_590_human_fibroblasts fron neonatal foreskin Gene SetFrom GEO Signatures of Differentially Expressed Genes for Gene Perturbations genes differentially expressed following the KDM4C_natural variation_GSE41040_590_human_fibroblasts fron neonatal foreskin gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. |
Neonatal lupus Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Neonatal lupus phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
neonatal unconjugated hyperbilirubinemia Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal unconjugated hyperbilirubinemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal hyperbilirubinemia Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal hyperbilirubinemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal breathing dysregulation Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal breathing dysregulation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal alloimmune thrombocytopenia Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal alloimmune thrombocytopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal epiphyseal stippling Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal epiphyseal stippling phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal short-trunk short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal short-trunk short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal death Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal death phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal insulin-dependent diabetes mellitus Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal insulin-dependent diabetes mellitus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal hypotonia Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
generalized neonatal hypotonia Gene SetFrom HPO Gene-Disease Associations genes associated with the generalized neonatal hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
spontaneous neonatal pneumothorax Gene SetFrom HPO Gene-Disease Associations genes associated with the spontaneous neonatal pneumothorax phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal respiratory distress Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal respiratory distress phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
transient neonatal diabetes mellitus Gene SetFrom HPO Gene-Disease Associations genes associated with the transient neonatal diabetes mellitus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal short-limb short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal short-limb short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
prolonged neonatal jaundice Gene SetFrom HPO Gene-Disease Associations genes associated with the prolonged neonatal jaundice phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal hypoglycemia Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal hypoglycemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal onset Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal onset phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Jaundice, Neonatal Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Jaundice, Neonatal 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. |
Hyperbilirubinemia, Neonatal Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Hyperbilirubinemia, Neonatal phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Thrombocytopenia, Neonatal Alloimmune Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Thrombocytopenia, Neonatal Alloimmune phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
partial neonatal lethality Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the partial neonatal lethality phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
complete neonatal lethality Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the complete neonatal lethality phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
neonatal lethality Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the neonatal lethality phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
diabetes mellitus, neonatal, with congenital hypothyroidism Gene SetFrom OMIM Gene-Disease Associations genes associated with the diabetes mellitus, neonatal, with congenital hypothyroidism phenotype from the curated OMIM Gene-Disease Associations dataset. |
seizures, benign neonatal, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the seizures, benign neonatal, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperparathyroidism, neonatal Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperparathyroidism, neonatal phenotype from the curated OMIM Gene-Disease Associations dataset. |
?diabetes mellitus, insulin-dependent, neonatal Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?diabetes mellitus, insulin-dependent, neonatal phenotype from the curated OMIM Gene-Disease Associations dataset. |
diabetes mellitus, transient neonatal 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the diabetes mellitus, transient neonatal 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
seizures, benign neonatal, type 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the seizures, benign neonatal, type 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombocytopenia, neonatal alloimmune Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombocytopenia, neonatal alloimmune phenotype from the curated OMIM Gene-Disease Associations dataset. |
diabetes mellitus, permanent neonatal Gene SetFrom OMIM Gene-Disease Associations genes associated with the diabetes mellitus, permanent neonatal phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperbilirubinemia, familial transient neonatal Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperbilirubinemia, familial transient neonatal phenotype from the curated OMIM Gene-Disease Associations dataset. |
myasthenia gravis, neonatal transient Gene SetFrom OMIM Gene-Disease Associations genes associated with the myasthenia gravis, neonatal transient phenotype from the curated OMIM Gene-Disease Associations dataset. |
{diabetes mellitus, transient neonatal} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {diabetes mellitus, transient neonatal} phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, neonatal alloimmune Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, neonatal alloimmune 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. |
thrombocytopenia, neonatal alloimmune, bak antigen related Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombocytopenia, neonatal alloimmune, bak antigen related phenotype from the curated OMIM Gene-Disease Associations dataset. |
diabetes mellitus, transient neonatal, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the diabetes mellitus, transient neonatal, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
diabetes mellitus, transient neonatal, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the diabetes mellitus, transient neonatal, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
diabetes, permanent neonatal Gene SetFrom OMIM Gene-Disease Associations genes associated with the diabetes, permanent neonatal phenotype from the curated OMIM Gene-Disease Associations dataset. |
citrullinemia, type ii, neonatal-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the citrullinemia, type ii, neonatal-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
diabetes mellitus, permanent neonatal, with neurologic features Gene SetFrom OMIM Gene-Disease Associations genes associated with the diabetes mellitus, permanent neonatal, with neurologic features phenotype from the curated OMIM Gene-Disease Associations dataset. |
{hypertrypsinemia, neonatal} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {hypertrypsinemia, neonatal} phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, alloimmune neonatal Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, alloimmune neonatal phenotype from the curated OMIM Gene-Disease Associations dataset. |
{pulmonary hypertension, neonatal, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {pulmonary hypertension, neonatal, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
zinc deficiency, transient neonatal Gene SetFrom OMIM Gene-Disease Associations genes associated with the zinc deficiency, transient neonatal phenotype from the curated OMIM Gene-Disease Associations dataset. |
cyanosis, transient neonatal Gene SetFrom OMIM Gene-Disease Associations genes associated with the cyanosis, transient neonatal phenotype from the curated OMIM Gene-Disease Associations dataset. |
neonatal Gene SetFrom Phosphosite Textmining Biological Term Annotations proteins co-occuring with the biological term neonatal in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset. |
Neonatal Hypotonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Hypotonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Respiratory Failure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Respiratory Failure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hyperbilirubinemia, Neonatal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hyperbilirubinemia, Neonatal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Hepatitis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Hepatitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
K Atp Permanent Neonatal Diabetes Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease K Atp Permanent Neonatal Diabetes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Diabetes Mellitus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Diabetes Mellitus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Hypoglycemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Hypoglycemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Transient Neonatal Diabetes Mellitus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Transient Neonatal Diabetes Mellitus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adrenoleukodystrophy, Neonatal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adrenoleukodystrophy, Neonatal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Alloimmune Thrombocytopenia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Alloimmune Thrombocytopenia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sclerosing Cholangitis, Neonatal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sclerosing Cholangitis, Neonatal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Herpes Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Herpes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Stroke Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Stroke in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Deformity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Deformity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Hypoxic Ischemic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Hypoxic Ischemic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Infection Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Citrullinemia, Type Ii, Neonatal-Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Citrullinemia, Type Ii, Neonatal-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Hemochromatosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Hemochromatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Benign Neonatal Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Benign Neonatal Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Hypocalcemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Hypocalcemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Pneumonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Pneumonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Systemic Lupus Erythematosus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Systemic Lupus Erythematosus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Transient Neonatal Renal Tubular Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Transient Neonatal Renal Tubular Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Hyperparathyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Hyperparathyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Chlamydial Conjunctivitis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Chlamydial Conjunctivitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Early-Onset Sepsis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Early-Onset Sepsis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alloimmune Neonatal Neutropenia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alloimmune Neonatal Neutropenia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Thrombocytopenia (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Thrombocytopenia (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Meningitis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Meningitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Hyperglycemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Hyperglycemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Late Onset Neonatal Pneumonia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Late Onset Neonatal Pneumonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Late-Onset Sepsis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Late-Onset Sepsis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Torulopsis Glabrata Fungemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Torulopsis Glabrata Fungemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Diarrhea Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Diarrhea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Intestinal Obstruction Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Intestinal Obstruction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Noninfective Neonatal Diarrhea Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Noninfective Neonatal Diarrhea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Necrotizing Enterocolitis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Necrotizing Enterocolitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Respiratory System Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Respiratory System Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Leukaemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Leukaemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Hemolytic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Hemolytic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Transient Neonatal Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Transient Neonatal Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cyanosis, Transient Neonatal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cyanosis, Transient Neonatal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Indirect Hyperbilirubinemia, Neonatal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Indirect Hyperbilirubinemia, Neonatal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Alloimmune Thrombocytopenia (Nait) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Alloimmune Thrombocytopenia (Nait) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Benign Neonatal Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Benign Neonatal Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Benign Neonatal Epilepsy, Nonfamilial Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Benign Neonatal Epilepsy, Nonfamilial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Listeriosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Listeriosis 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. |
Neonatal Thrombosis Of Cerebral Venous Sinus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Thrombosis Of Cerebral Venous Sinus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Unconjugated Hyperbilirubinemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Unconjugated Hyperbilirubinemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
6Q24-Related Transient Neonatal Diabetes Mellitus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 6Q24-Related Transient Neonatal Diabetes Mellitus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Rickets Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Rickets in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Testicular Torsion Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Testicular Torsion 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. |
Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Disorder Of Endocrine System Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Disorder Of Endocrine System in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Hyperthyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Hyperthyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Thyrotoxicosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Thyrotoxicosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Prolonged Neonatal Jaundice Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Prolonged Neonatal Jaundice in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Respiratory Distress Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Respiratory Distress in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Insulin-Dependent Diabetes Mellitus Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Insulin-Dependent Diabetes Mellitus in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Jaundice Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Jaundice in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Onset Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Tremor, Neonatal Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Tremor, Neonatal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Spontaneous Neonatal Pneumothorax Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Spontaneous Neonatal Pneumothorax in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Generalized Neonatal Hypotonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Generalized Neonatal Hypotonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Breathing Dysregulation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Breathing Dysregulation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Cholestatic Liver Disease Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Cholestatic Liver Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Death Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Death in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Hypertrypsinemia, Neonatal, Susceptibility To Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hypertrypsinemia, Neonatal, Susceptibility To in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Short-Limb Short Stature Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Short-Limb Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Short-Trunk Short Stature Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Short-Trunk Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Direct Hyperbilirubinemia, Neonatal Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Direct Hyperbilirubinemia, Neonatal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Inspiratory Stridor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Inspiratory Stridor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Epiphyseal Stippling Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Epiphyseal Stippling in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Transient Neonatal Hyperparathyroidism Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Transient Neonatal Hyperparathyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
neonatal lethality, complete penetrance Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the neonatal lethality, complete penetrance phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
neonatal lethality, incomplete penetrance Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the neonatal lethality, incomplete penetrance phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
neonatal lethality Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the neonatal lethality phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Neonatal astrocyte_Brain_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Neonatal astrocyte_Brain_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Benign neonatal seizures Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Benign neonatal seizures from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Neonatal diabetes Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Neonatal diabetes from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Permanent neonatal diabetes mellitus Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Permanent neonatal diabetes mellitus from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Neonatal diabetes Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neonatal diabetes in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neonatal respiratory failure Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neonatal respiratory failure in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Permanent neonatal diabetes mellitus Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Permanent neonatal diabetes mellitus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neonatal jaundice Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neonatal jaundice in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Transient neonatal diabetes mellitus Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Transient neonatal diabetes mellitus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
neonatal-onset type II citrullinemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease neonatal-onset type II citrullinemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Benign neonatal seizures Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Benign neonatal seizures in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neonatal anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neonatal anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neonatal leukemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neonatal leukemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neonatal thyrotoxicosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neonatal thyrotoxicosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Benign familial neonatal epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 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 2025 dataset. |
Transient neonatal thrombocytopenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Transient neonatal thrombocytopenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Transient neonatal neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Transient neonatal neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neonatal myasthenia gravis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neonatal myasthenia gravis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neonatal candidiasis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neonatal candidiasis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neonatal diabetes mellitus with congenital hypothyroidism Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neonatal diabetes mellitus with congenital hypothyroidism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neonatal infective mastitis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neonatal infective mastitis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neonatal intrahepatic cholestasis due to citrin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal intrahepatic cholestasis due to citrin 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. |
Permanent neonatal diabetes mellitus Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Permanent neonatal diabetes mellitus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal insulin-dependent diabetes mellitus Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal insulin-dependent diabetes mellitus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal diabetes mellitus Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal diabetes mellitus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Transitory neonatal diabetes mellitus Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Transitory neonatal diabetes mellitus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Transient Neonatal Diabetes Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Transient Neonatal Diabetes 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. |
History of neonatal hypotonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the History of neonatal hypotonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Benign neonatal seizures Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Benign neonatal seizures phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Benign Neonatal Epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Benign Neonatal Epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal-onset encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal-onset encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal hypotonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal hypotonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal hypoglycemia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal hypoglycemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Isolated neonatal sclerosing cholangitis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Isolated neonatal sclerosing cholangitis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal death Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal death phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal respiratory distress Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal respiratory distress phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal white matter microstructure Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Neonatal white matter microstructure phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Neonatal total 25-hydroxyvitamin D levels (maternal genetic effect) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Neonatal total 25-hydroxyvitamin D levels (maternal genetic effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Neonatal total 25-hydroxyvitamin D levels (fetal genetic effect) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Neonatal total 25-hydroxyvitamin D levels (fetal genetic effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Neonatal cytokine/chemokine levels (maternal genetic effect) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Neonatal cytokine/chemokine levels (maternal genetic effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Neonatal cytokine/chemokine levels (fetal genetic effect) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Neonatal cytokine/chemokine levels (fetal genetic effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Neonatal lupus Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Neonatal lupus phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Lynch syndrome:Lynch syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression Gene SetFrom Biocarta Pathways proteins participating in the basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression pathway from the Biocarta Pathways dataset. |
BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coloboma, uveal, with cleft lip and palate and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coloboma, uveal, with cleft lip and palate and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diabetes mellitus AND insipidus with optic atrophy AND deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diabetes mellitus AND insipidus with optic atrophy AND deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH from the curated CTD Gene-Disease Associations dataset. |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux from the curated CTD Gene-Disease Associations dataset. |
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations from the curated CTD Gene-Disease Associations dataset. |
postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anxiety and hostility and depression Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anxiety and hostility and depression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
frontotemporal dementia and pick-like 3r and 4r tauopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease frontotemporal dementia and pick-like 3r and 4r tauopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
squamous cell carcinomas of the head and neck (scchn) and breast cancer Gene SetFrom GAD Gene-Disease Associations genes associated with the disease squamous cell carcinomas of the head and neck (scchn) and breast cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
vitamins and metabolites in pregnant women and neonates Gene SetFrom GAD Gene-Disease Associations genes associated with the disease vitamins and metabolites in pregnant women and neonates in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
racemase and epimerase activity, acting on amino acids and derivatives Gene SetFrom GO Molecular Function Annotations 2015 genes performing the racemase and epimerase activity, acting on amino acids and derivatives molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
racemase and epimerase activity, acting on carbohydrates and derivatives Gene SetFrom GO Molecular Function Annotations 2015 genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation phenotype from the curated OMIM Gene-Disease Associations dataset. |
microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Gene SetFrom OMIM Gene-Disease Associations genes associated with the microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, progressive, seizures, and cerebral and cerebellar atrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies phenotype from the curated OMIM Gene-Disease Associations dataset. |
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Setproteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways dataset. |
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Setproteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways dataset. |
PI and PC transport between ER and Golgi membranes Gene Setproteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways dataset. |
Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Setproteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways dataset. |
FGFR1c and Klotho ligand binding and activation Gene Setproteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways dataset. |
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Setproteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways dataset. |
Synthesis and processing of ENV and VPU Gene Setproteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways dataset. |
Synthesis and interconversion of nucleotide di- and triphosphates Gene Setproteins participating in the Synthesis and interconversion of nucleotide di- and triphosphates pathway from the Reactome Pathways dataset. |
SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset. |
SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset. |
SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset. |
High-Grade B-Cell Lymphoma, With Myc And Bcl2 And/Or Bcl6 Rearrangements Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease High-Grade B-Cell Lymphoma, With Myc And Bcl2 And/Or Bcl6 Rearrangements in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
racemase and epimerase activity, acting on carbohydrates and derivatives Gene SetFrom GO Molecular Function Annotations 2023 genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
SRF and miRs in smooth muscle differentiation and proliferation Gene SetFrom WikiPathways Pathways 2024 proteins participating in the SRF and miRs in smooth muscle differentiation and proliferation pathway from the WikiPathways Pathways 2024 dataset. |
SREBF and miR33 in cholesterol and lipid homeostasis Gene SetFrom WikiPathways Pathways 2024 proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis pathway from the WikiPathways Pathways 2024 dataset. |
RIOK1 and RIOK2 in EGFR and PI3K mediated tumorigenesis Gene SetFrom WikiPathways Pathways 2024 proteins participating in the RIOK1 and RIOK2 in EGFR and PI3K mediated tumorigenesis pathway from the WikiPathways Pathways 2024 dataset. |
ApoE and miR 146 in inflammation and atherosclerosis Gene SetFrom WikiPathways Pathways 2024 proteins participating in the ApoE and miR 146 in inflammation and atherosclerosis pathway from the WikiPathways Pathways 2024 dataset. |
Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine pathway from the WikiPathways Pathways 2024 dataset. |
Somatroph axis GH and its relationship to dietary restriction and aging Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Somatroph axis GH and its relationship to dietary restriction and aging pathway from the WikiPathways Pathways 2024 dataset. |
Mechanoregulation and pathology of YAP TAZ via Hippo and non Hippo mechanisms Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Mechanoregulation and pathology of YAP TAZ via Hippo and non Hippo mechanisms pathway from the WikiPathways Pathways 2024 dataset. |
GLP 1 from intestine and pancreas and role in glucose homeostasis Gene SetFrom WikiPathways Pathways 2024 proteins participating in the GLP 1 from intestine and pancreas and role in glucose homeostasis pathway from the WikiPathways Pathways 2024 dataset. |
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Setproteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways 2024 dataset. |
Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR) Gene Setproteins participating in the Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR) pathway from the Reactome Pathways 2024 dataset. |
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Setproteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways 2024 dataset. |
FGFR1c and Klotho ligand binding and activation Gene Setproteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways 2024 dataset. |
MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Gene Setproteins participating in the MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis pathway from the Reactome Pathways 2024 dataset. |
Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Setproteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways 2024 dataset. |
PI and PC transport between ER and Golgi membranes Gene Setproteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways 2024 dataset. |
PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 Gene Setproteins participating in the PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 pathway from the Reactome Pathways 2024 dataset. |
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Gene Setproteins participating in the Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks pathway from the Reactome Pathways 2024 dataset. |
Synthesis and processing of ENV and VPU Gene Setproteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways 2024 dataset. |
Transcriptional and post-translational regulation of MITF-M expression and activity Gene Setproteins participating in the Transcriptional and post-translational regulation of MITF-M expression and activity pathway from the Reactome Pathways 2024 dataset. |
Transport of bile salts and organic acids, metal ions and amine compounds Gene Setproteins participating in the Transport of bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways 2024 dataset. |
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Setproteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways 2024 dataset. |
racemase and epimerase activity, acting on carbohydrates and derivatives Gene SetFrom GO Molecular Function Annotations 2025 genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Vertebral anomalies and variable endocrine and T-cell dysfunction Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Vertebral anomalies and variable endocrine and T-cell dysfunction in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Vertebral anomalies and variable endocrine and T-cell dysfunction Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Vertebral anomalies and variable endocrine and T-cell dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Regulation of gene expression and signal transduction in immune and stress responses Gene SetFrom CM4AI U2OS Cell Map Protein Localization Assemblies proteins comprising Regulation of gene expression and signal transduction in immune and stress responses assembly using integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset. |
Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
visceral fat deposits and the metabolic syndrome Gene SetFrom Biocarta Pathways proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset. |
Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Foveal hypoplasia and presenile cataract syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Foveal hypoplasia and presenile cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniofacial anomalies and anterior segment dysgenesis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alopecia, neurologic defects, and endocrinopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Knuckle pads, deafness AND leukonychia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Knuckle pads, deafness AND leukonychia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jervell and Lange-Nielsen syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jervell and Lange-Nielsen syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
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. |
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, hiatal hernia and nephrotic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, hiatal hernia and nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jervell and Lange-Nielsen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jervell and Lange-Nielsen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutis Gyrata syndrome of Beare and Stevenson Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutis Gyrata syndrome of Beare and Stevenson phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alacrima, achalasia, and mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alacrima, achalasia, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutaneous telangiectasia and cancer syndrome, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutaneous telangiectasia and cancer syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pineal hyperplasia AND diabetes mellitus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pineal hyperplasia AND diabetes mellitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Camptodactyly, tall stature, and hearing loss syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Camptodactyly, tall stature, and hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, iris coloboma, and comedogenic acne syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome from the curated CTD Gene-Disease Associations dataset. |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease from the curated CTD Gene-Disease Associations dataset. |
Keratitis, Ichthyosis, and Deafness (KID) Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Keratitis, Ichthyosis, and Deafness (KID) Syndrome from the curated CTD Gene-Disease Associations dataset. |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 from the curated CTD Gene-Disease Associations dataset. |
Cutis Gyrata Syndrome of Beare And Stevenson Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cutis Gyrata Syndrome of Beare And Stevenson from the curated CTD Gene-Disease Associations dataset. |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 from the curated CTD Gene-Disease Associations dataset. |
Hereditary Breast and Ovarian Cancer Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Breast and Ovarian Cancer Syndrome from the curated CTD Gene-Disease Associations dataset. |
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS from the curated CTD Gene-Disease Associations dataset. |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 from the curated CTD Gene-Disease Associations dataset. |
Sarcoma family syndrome of Li and Fraumeni Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sarcoma family syndrome of Li and Fraumeni from the curated CTD Gene-Disease Associations dataset. |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome from the curated CTD Gene-Disease Associations dataset. |
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis from the curated CTD Gene-Disease Associations dataset. |
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 from the curated CTD Gene-Disease Associations dataset. |
Jervell And Lange-Nielsen Syndrome 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Jervell And Lange-Nielsen Syndrome 2 from the curated CTD Gene-Disease Associations dataset. |
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alopecia, Neurologic Defects, and Endocrinopathy Syndrome from the curated CTD Gene-Disease Associations dataset. |
Renal cysts and diabetes syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Renal cysts and diabetes syndrome from the curated CTD Gene-Disease Associations dataset. |
blepharophimosis, ptosis, and epicanthus inversus syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease blepharophimosis, ptosis, and epicanthus inversus syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
tooth and nail syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease tooth and nail syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
blepharophimosis, ptosis, and epicanthus inversus syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease blepharophimosis, ptosis, and epicanthus inversus syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 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. |
psoriasis, psoriatic arthritis, and sapho syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease psoriasis, psoriatic arthritis, and sapho syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
jervell and lange-nielsen syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease jervell and lange-nielsen syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyper-igm syndrome can form oligomers and trigger cd40-mediated signals Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyper-igm syndrome can form oligomers and trigger cd40-mediated signals in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
leigh syndrome and cytochrome c oxidase deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease leigh syndrome and cytochrome c oxidase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
complete androgen insensitivity syndrome and sertoli cell adenoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease complete androgen insensitivity syndrome and sertoli cell adenoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
metabolic syndrome and electrocardiographic coronary artery disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease metabolic syndrome and electrocardiographic coronary artery disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
critical illness; respiratory distress syndrome, adult; wounds and injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease critical illness; respiratory distress syndrome, adult; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
systemic inflammatory response syndrome; wounds and injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease systemic inflammatory response syndrome; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
elevated liver enzymes and metabolic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease elevated liver enzymes and metabolic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
tic; combined vocal and multiple motor; tourette syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease tic; combined vocal and multiple motor; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
li-fraumeni and related syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease li-fraumeni and related syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
jervell and lange-nielsen syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the jervell and lange-nielsen syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
lymphedema-distichiasis syndrome with renal disease and diabetes mellitus Gene SetFrom OMIM Gene-Disease Associations genes associated with the lymphedema-distichiasis syndrome with renal disease and diabetes mellitus phenotype from the curated OMIM Gene-Disease Associations dataset. |
melanoma and neural system tumor syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the melanoma and neural system tumor syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
craniofacial anomalies and anterior segment dysgenesis syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
renal cysts and diabetes syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the renal cysts and diabetes syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
alacrima, achalasia, and mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the alacrima, achalasia, and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myelodysplasia and leukemia syndrome with monosomy 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myelodysplasia and leukemia syndrome with monosomy 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
aicardi-goutieres syndrome 1, dominant and recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the aicardi-goutieres syndrome 1, dominant and recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
?cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
antley-bixler syndrome with genital anomalies and disordered steroidogenesis Gene SetFrom OMIM Gene-Disease Associations genes associated with the antley-bixler syndrome with genital anomalies and disordered steroidogenesis phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
?retinal dystrophy, juvenile cataracts, and short stature syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
retinol dystrophy, iris coloboma, and comedogenic acne syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the retinol dystrophy, iris coloboma, and comedogenic acne syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Gene SetFrom OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly, epilepsy, and diabetes syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, epilepsy, and diabetes syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
jervell and lange-nielsen syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the jervell and lange-nielsen syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene SetFrom OMIM Gene-Disease Associations genes associated with the myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated OMIM Gene-Disease Associations dataset. |
autoinflammation, antibody deficiency, and immune dysregulation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the autoinflammation, antibody deficiency, and immune dysregulation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
alopecia, neurologic defects, and endocrinopathy syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
cutaneous telangiectasia and cancer syndrome, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the cutaneous telangiectasia and cancer syndrome, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial recessive ataxia syndrome (includes sando and scae) Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial recessive ataxia syndrome (includes sando and scae) phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
autoinflammation, lipodystrophy, and dermatosis syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the autoinflammation, lipodystrophy, and dermatosis syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
?partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
Tibial Aplasia And Ectrodactyly Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Tibial Aplasia And Ectrodactyly Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hereditary Breast And Ovarian Cancer Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hereditary Breast And Ovarian Cancer Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Differentiation Syndrome Due To And Following Chemotherapy Co-Occurrent With Acute Promyelocytic Leukemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Differentiation Syndrome Due To And Following Chemotherapy Co-Occurrent With Acute Promyelocytic Leukemia 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. |
Lymphedema, Microcephaly And Chorioretinopathy Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lymphedema, Microcephaly And Chorioretinopathy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polio And Post-Polio Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polio And Post-Polio Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cutaneous Telangiectasia And Cancer Syndrome, Familial Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cutaneous Telangiectasia And Cancer Syndrome, Familial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Partial Lipodystrophy, Congenital Cataracts, And Neurodegeneration Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Partial Lipodystrophy, Congenital Cataracts, And Neurodegeneration Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy-Like Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy-Like Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Behavioral Syndrome Associated With Physiological Disturbance And Physical Factors Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Behavioral Syndrome Associated With Physiological Disturbance And Physical Factors in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Therapy-Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Therapy-Related Acute Myeloid Leukemia And Myelodysplastic Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Renal Cysts And Diabetes Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Renal Cysts And Diabetes Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cutis Gyrata Syndrome Of Beare And Stevenson Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cutis Gyrata Syndrome Of Beare And Stevenson in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lymphedema-Distichiasis Syndrome With Renal Disease And Diabetes Mellitus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lymphedema-Distichiasis Syndrome With Renal Disease And Diabetes Mellitus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alacrima, Achalasia, And Mental Retardation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alacrima, Achalasia, And Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nail And Tooth Abnormalities, Marginal Palmoplantar Keratoderma, Oral Hyperpigmentation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nail And Tooth Abnormalities, Marginal Palmoplantar Keratoderma, Oral Hyperpigmentation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Vertebral, Cardiac, Renal, And Limb Defects Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Jervell And Lange-Nielsen Syndrome 2 (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Jervell And Lange-Nielsen Syndrome 2 (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Periodic Fever, Aphthous Stomatitis, Pharyngitis, And Adenopathy Syndrome [Pfapa] Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Periodic Fever, Aphthous Stomatitis, Pharyngitis, And Adenopathy Syndrome [Pfapa] in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Encephalopathy, Lactic Acidosis And Stroke-Like Episodes (Melas Syndrome) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Encephalopathy, Lactic Acidosis And Stroke-Like Episodes (Melas Syndrome) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Andibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Andibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Heart And Brain Malformation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Heart And Brain Malformation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Facial Onset Sensory And Motor Neuronopathy Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Facial Onset Sensory And Motor Neuronopathy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Structural Heart Defects And Renal Anomalies Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Structural Heart Defects And Renal Anomalies Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Coloboma, Cleft Lip-Palate And Mental Retardation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Coloboma, Cleft Lip-Palate And Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
MECP2 and associated Rett syndrome Gene SetFrom WikiPathways Pathways 2024 proteins participating in the MECP2 and associated Rett syndrome pathway from the WikiPathways Pathways 2024 dataset. |
Prader Willi and Angelman syndrome Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Prader Willi and Angelman syndrome pathway from the WikiPathways Pathways 2024 dataset. |
Smith Magenis and Potocki Lupski syndrome copy number variation Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Smith Magenis and Potocki Lupski syndrome copy number variation pathway from the WikiPathways Pathways 2024 dataset. |
Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome Gene Setproteins participating in the Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome pathway from the Reactome Pathways 2024 dataset. |
contractures, pterygia, and spondylocarpotarsal fusion syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease contractures, pterygia, and spondylocarpotarsal fusion syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
blepharophimosis, ptosis, and epicanthus inversus syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease blepharophimosis, ptosis, and epicanthus inversus syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
alopecia, neurologic defects, and endocrinopathy syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease alopecia, neurologic defects, and endocrinopathy syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary arterial and articular multiple calcification syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary arterial and articular multiple calcification syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
hypotonia, ataxia, and delayed development syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease hypotonia, ataxia, and delayed development syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
alacrima, achalasia, and impaired intellectual development syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease alacrima, achalasia, and impaired intellectual development syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Salt and pepper syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Salt and pepper syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Agenesis of corpus callosum, cardiac, ocular, and genital syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cerebellar ataxia, mental retardation and dysequlibrium syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cerebellar ataxia, mental retardation and dysequlibrium syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
blepharophimosis, ptosis, and epicanthus inversus syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease blepharophimosis, ptosis, and epicanthus inversus syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
syndactyly-telecanthus-anogenital and renal malformations syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease syndactyly-telecanthus-anogenital and renal malformations syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
contractures, pterygia, and spondylocarpotarsal fusion syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease contractures, pterygia, and spondylocarpotarsal fusion syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Melanoma and neural system tumor syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Melanoma and neural system tumor syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Tooth and nail syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Tooth and nail syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypertension and brachydactyly syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypertension and brachydactyly syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Joubert syndrome and related disorders Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Joubert syndrome and related disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Jervell and Lange-Nielsen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Jervell and Lange-Nielsen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Fetal akinesia-cerebral and retinal hemorrhage syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Fetal akinesia-cerebral and retinal hemorrhage syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Syndactyly-telecanthus-anogenital and renal malformations syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndactyly-telecanthus-anogenital and renal malformations syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Melanoma and neural system tumor syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Melanoma and neural system tumor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
CDH1-related diffuse gastric and lobular breast cancer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the CDH1-related diffuse gastric and lobular breast cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Renal cysts and diabetes syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Renal cysts and diabetes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary thrombocytopenia and hematologic cancer predisposition syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined osteogenesis imperfecta and Ehlers-Danlos syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary arterial and articular multiple calcification syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary arterial and articular multiple calcification syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progeroid and marfanoid aspect-lipodystrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progeroid and marfanoid aspect-lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability and myopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability and myopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Gastrointestinal defects and immunodeficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Gastrointestinal defects and immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Gastrointestinal defect and immunodeficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Gastrointestinal defect and immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Monosomy 7 myelodysplasia and leukemia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Monosomy 7 myelodysplasia and leukemia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Diffuse gastric and lobular breast cancer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Diffuse gastric and lobular breast cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
POLE-related polyposis and colorectal cancer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the POLE-related polyposis and colorectal cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature-pituitary and cerebellar defects-small sella turcica syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature-pituitary and cerebellar defects-small sella turcica syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Keratitis ichthyosis and deafness syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Keratitis ichthyosis and deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital heart defects and skeletal malformations syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital heart defects and skeletal malformations syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Structural heart defects and renal anomalies syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Structural heart defects and renal anomalies syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Childhood-onset motor and cognitive regression syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Childhood-onset motor and cognitive regression syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pulmonary fibrosis and/or bone marrow failure syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pulmonary fibrosis and/or bone marrow failure syndrome 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. |
Focal segmental glomerulosclerosis and neurodevelopmental syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Focal segmental glomerulosclerosis and neurodevelopmental syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Heart and brain malformation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Heart and brain malformation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Craniofacial anomalies and anterior segment dysgenesis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Genitourinary and/or brain malformation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Genitourinary and/or brain malformation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital anomalies of kidney and urinary tract syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital anomalies of kidney and urinary tract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Triokinase and FMN cyclase deficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Triokinase and FMN cyclase deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Polycystic ovary syndrome (adjusted for age and BMI) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Polycystic ovary syndrome (adjusted for age and BMI) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Lynch syndrome:Turcot syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marfan's syndrome:Marfan's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marfan's syndrome:Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
IFAP syndrome with or without BRESHECK syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the IFAP syndrome with or without BRESHECK syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome I:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome I:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Miller-McKusick-Malvaux-Syndrome (3M Syndrome) from the curated CTD Gene-Disease Associations dataset. |
Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 from the curated CTD Gene-Disease Associations dataset. |
menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cornelia de lange syndrome; de lange syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cornelia de lange syndrome; de lange syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatigue syndrome, chronic; fatigue syndrome; postviral Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
restless legs syndrome; tourette syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
behcet syndrome; uveomeningoencephalitic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease behcet syndrome; uveomeningoencephalitic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
melas syndrome; merrf syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease melas syndrome; merrf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infertility; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infertility; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
angelman syndrome; rett syndrome; seizures Gene SetFrom GAD Gene-Disease Associations genes associated with the disease angelman syndrome; rett syndrome; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
digeorge syndrome; memory disorders; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; memory disorders; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
metabolic syndrome ; metabolic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease metabolic syndrome ; metabolic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
digeorge syndrome; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
down syndrome; ehlers-danlos syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease down syndrome; ehlers-danlos syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis; felty's syndrome; large granular lymphocyte syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis; felty's syndrome; large granular lymphocyte syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; metabolic syndrome x; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart-hand syndrome, holt-oram syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart-hand syndrome, holt-oram syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
digeorge syndrome/velocardiofacial syndrome complex-2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the digeorge syndrome/velocardiofacial syndrome complex-2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ifap syndrome with or without bresheck syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the ifap syndrome with or without bresheck syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Crouzon syndrome-acanthosis nigricans syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Crouzon syndrome-acanthosis nigricans syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Crouzon syndrome-acanthosis nigricans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked cerebral-cerebellar-coloboma syndrome syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked cerebral-cerebellar-coloboma syndrome syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Basic cell groups and regions Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Basic cell groups and regions relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
head and face region of M1 Gene SetFrom Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles genes with high or low expression in head and face region of M1 relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. |
telomeres telomerase cellular aging and immortality Gene SetFrom Biocarta Pathways proteins participating in the telomeres telomerase cellular aging and immortality pathway from the Biocarta Pathways dataset. |
mcalpain and friends in cell motility Gene SetFrom Biocarta Pathways proteins participating in the mcalpain and friends in cell motility pathway from the Biocarta Pathways dataset. |
role of ppar-gamma coactivators in obesity and thermogenesis Gene SetFrom Biocarta Pathways proteins participating in the role of ppar-gamma coactivators in obesity and thermogenesis pathway from the Biocarta Pathways dataset. |
il12 and stat4 dependent signaling pathway in th1 development Gene SetFrom Biocarta Pathways proteins participating in the il12 and stat4 dependent signaling pathway in th1 development pathway from the Biocarta Pathways dataset. |
hypoxia and p53 in the cardiovascular system Gene SetFrom Biocarta Pathways proteins participating in the hypoxia and p53 in the cardiovascular system pathway from the Biocarta Pathways dataset. |
lissencephaly gene (lis1) in neuronal migration and development Gene SetFrom Biocarta Pathways proteins participating in the lissencephaly gene (lis1) in neuronal migration and development pathway from the Biocarta Pathways dataset. |
role of erbb2 in signal transduction and oncology Gene SetFrom Biocarta Pathways proteins participating in the role of erbb2 in signal transduction and oncology pathway from the Biocarta Pathways dataset. |
corticosteroids and cardioprotection Gene SetFrom Biocarta Pathways proteins participating in the corticosteroids and cardioprotection pathway from the Biocarta Pathways dataset. |
cyclins and cell cycle regulation Gene SetFrom Biocarta Pathways proteins participating in the cyclins and cell cycle regulation pathway from the Biocarta Pathways dataset. |
mechanism of acetaminophen activity and toxicity Gene SetFrom Biocarta Pathways proteins participating in the mechanism of acetaminophen activity and toxicity pathway from the Biocarta Pathways dataset. |
nfat and hypertrophy of the heart Gene SetFrom Biocarta Pathways proteins participating in the nfat and hypertrophy of the heart pathway from the Biocarta Pathways dataset. |
acetylation and deacetylation of rela in nucleus Gene SetFrom Biocarta Pathways proteins participating in the acetylation and deacetylation of rela in nucleus pathway from the Biocarta Pathways dataset. |
thrombin signaling and protease-activated receptors Gene SetFrom Biocarta Pathways proteins participating in the thrombin signaling and protease-activated receptors pathway from the Biocarta Pathways dataset. |
antigen processing and presentation Gene SetFrom Biocarta Pathways proteins participating in the antigen processing and presentation pathway from the Biocarta Pathways dataset. |
stathmin and breast cancer resistance to antimicrotubule agents Gene SetFrom Biocarta Pathways proteins participating in the stathmin and breast cancer resistance to antimicrotubule agents pathway from the Biocarta Pathways dataset. |
role of ß-arrestins in the activation and targeting of map kinases Gene SetFrom Biocarta Pathways proteins participating in the role of ß-arrestins in the activation and targeting of map kinases pathway from the Biocarta Pathways dataset. |
cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway Gene SetFrom Biocarta Pathways proteins participating in the cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway pathway from the Biocarta Pathways dataset. |
role of pi3k subunit p85 in regulation of actin organization and cell migration Gene SetFrom Biocarta Pathways proteins participating in the role of pi3k subunit p85 in regulation of actin organization and cell migration pathway from the Biocarta Pathways dataset. |
btg family proteins and cell cycle regulation Gene SetFrom Biocarta Pathways proteins participating in the btg family proteins and cell cycle regulation pathway from the Biocarta Pathways dataset. |
control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) Gene SetFrom Biocarta Pathways proteins participating in the control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) pathway from the Biocarta Pathways dataset. |
endocytotic role of ndk phosphins and dynamin Gene SetFrom Biocarta Pathways proteins participating in the endocytotic role of ndk phosphins and dynamin pathway from the Biocarta Pathways dataset. |
regulation of eif-4e and p70s6 kinase Gene SetFrom Biocarta Pathways proteins participating in the regulation of eif-4e and p70s6 kinase pathway from the Biocarta Pathways dataset. |
estrogen responsive protein efp controls cell cycle and breast tumors growth Gene SetFrom Biocarta Pathways proteins participating in the estrogen responsive protein efp controls cell cycle and breast tumors growth pathway from the Biocarta Pathways dataset. |
vegf hypoxia and angiogenesis Gene SetFrom Biocarta Pathways proteins participating in the vegf hypoxia and angiogenesis pathway from the Biocarta Pathways dataset. |
yaci and bcma stimulation of b cell immune responses Gene SetFrom Biocarta Pathways proteins participating in the yaci and bcma stimulation of b cell immune responses pathway from the Biocarta Pathways dataset. |
lck and fyn tyrosine kinases in initiation of tcr activation Gene SetFrom Biocarta Pathways proteins participating in the lck and fyn tyrosine kinases in initiation of tcr activation pathway from the Biocarta Pathways dataset. |
hiv-1 nef: negative effector of fas and tnf Gene SetFrom Biocarta Pathways proteins participating in the hiv-1 nef: negative effector of fas and tnf pathway from the Biocarta Pathways dataset. |
nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells Gene SetFrom Biocarta Pathways proteins participating in the nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells pathway from the Biocarta Pathways dataset. |
ucalpain and friends in cell spread Gene SetFrom Biocarta Pathways proteins participating in the ucalpain and friends in cell spread pathway from the Biocarta Pathways dataset. |
ionomycin and phorbal ester signaling pathway Gene SetFrom Biocarta Pathways proteins participating in the ionomycin and phorbal ester signaling pathway pathway from the Biocarta Pathways dataset. |
carm1 and regulation of the estrogen receptor Gene SetFrom Biocarta Pathways proteins participating in the carm1 and regulation of the estrogen receptor pathway from the Biocarta Pathways dataset. |
phosphoinositides and their downstream targets Gene SetFrom Biocarta Pathways proteins participating in the phosphoinositides and their downstream targets pathway from the Biocarta Pathways dataset. |
melanocyte development and pigmentation pathway Gene SetFrom Biocarta Pathways proteins participating in the melanocyte development and pigmentation pathway pathway from the Biocarta Pathways dataset. |
akap95 role in mitosis and chromosome dynamics Gene SetFrom Biocarta Pathways proteins participating in the akap95 role in mitosis and chromosome dynamics pathway from the Biocarta Pathways dataset. |
transcription factor creb and its extracellular signals Gene SetFrom Biocarta Pathways proteins participating in the transcription factor creb and its extracellular signals pathway from the Biocarta Pathways dataset. |
the igf-1 receptor and longevity Gene SetFrom Biocarta Pathways proteins participating in the the igf-1 receptor and longevity pathway from the Biocarta Pathways dataset. |
cdc25 and chk1 regulatory pathway in response to dna damage Gene SetFrom Biocarta Pathways proteins participating in the cdc25 and chk1 regulatory pathway in response to dna damage pathway from the Biocarta Pathways dataset. |
human cytomegalovirus and map kinase pathways Gene SetFrom Biocarta Pathways proteins participating in the human cytomegalovirus and map kinase pathways pathway from the Biocarta Pathways dataset. |
influence of ras and rho proteins on g1 to s transition Gene SetFrom Biocarta Pathways proteins participating in the influence of ras and rho proteins on g1 to s transition pathway from the Biocarta Pathways dataset. |
proteolysis and signaling pathway of notch Gene SetFrom Biocarta Pathways proteins participating in the proteolysis and signaling pathway of notch pathway from the Biocarta Pathways dataset. |
apoptotic dna-fragmentation and tissue homeostasis Gene SetFrom Biocarta Pathways proteins participating in the apoptotic dna-fragmentation and tissue homeostasis pathway from the Biocarta Pathways dataset. |
ion channels and their functional role in vascular endothelium Gene SetFrom Biocarta Pathways proteins participating in the ion channels and their functional role in vascular endothelium pathway from the Biocarta Pathways dataset. |
alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease Gene SetFrom Biocarta Pathways proteins participating in the alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease pathway from the Biocarta Pathways dataset. |
fosb gene expression and drug abuse Gene SetFrom Biocarta Pathways proteins participating in the fosb gene expression and drug abuse pathway from the Biocarta Pathways dataset. |
links between pyk2 and map kinases Gene SetFrom Biocarta Pathways proteins participating in the links between pyk2 and map kinases pathway from the Biocarta Pathways dataset. |
opposing roles of aif in apoptosis and cell survival Gene SetFrom Biocarta Pathways proteins participating in the opposing roles of aif in apoptosis and cell survival pathway from the Biocarta Pathways dataset. |
degradation of the rar and rxr by the proteasome Gene SetFrom Biocarta Pathways proteins participating in the degradation of the rar and rxr by the proteasome pathway from the Biocarta Pathways dataset. |
cadmium induces dna synthesis and proliferation in macrophages Gene SetFrom Biocarta Pathways proteins participating in the cadmium induces dna synthesis and proliferation in macrophages pathway from the Biocarta Pathways dataset. |
erk and pi-3 kinase are necessary for collagen binding in corneal epithelia Gene SetFrom Biocarta Pathways proteins participating in the erk and pi-3 kinase are necessary for collagen binding in corneal epithelia pathway from the Biocarta Pathways dataset. |
role of brca1 brca2 and atr in cancer susceptibility Gene SetFrom Biocarta Pathways proteins participating in the role of brca1 brca2 and atr in cancer susceptibility pathway from the Biocarta Pathways dataset. |
chrebp regulation by carbohydrates and camp Gene SetFrom Biocarta Pathways proteins participating in the chrebp regulation by carbohydrates and camp pathway from the Biocarta Pathways dataset. |
pten dependent cell cycle arrest and apoptosis Gene SetFrom Biocarta Pathways proteins participating in the pten dependent cell cycle arrest and apoptosis pathway from the Biocarta Pathways dataset. |
induction of apoptosis through dr3 and dr4/5 death receptors Gene SetFrom Biocarta Pathways proteins participating in the induction of apoptosis through dr3 and dr4/5 death receptors pathway from the Biocarta Pathways dataset. |
CIITA-18437201-Raji B cells and iDC-human Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the CIITA-18437201-Raji B cells and iDC-human transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
FOXP2-23625967-PFSK-1 AND SK-N-MC-HUMAN Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the FOXP2-23625967-PFSK-1 AND SK-N-MC-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
VDR-23401126-LCL-AND-THP1-HUMAN Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the VDR-23401126-LCL-AND-THP1-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
YY1-23942234-MYOBLASTS AND MYOTUBES-MOUSE Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the YY1-23942234-MYOBLASTS AND MYOTUBES-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
BACH1-22875853-HELA-AND-SCP4-HUMAN Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the BACH1-22875853-HELA-AND-SCP4-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
EZH2-23942234-MYOBLASTS AND MYOTUBES-MOUSE Gene SetFrom ChEA Transcription Factor Binding Site Profiles genes with transcription factor binding evidence in the EZH2-23942234-MYOBLASTS AND MYOTUBES-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset. |
Hypothyroidism, central, and testicular enlargement Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypothyroidism, central, and testicular enlargement phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Trifunctional protein deficiency with myopathy and neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arthrogryposis, mental retardation, and seizures Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arthrogryposis, mental retardation, and seizures phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Vater association with macrocephaly and ventriculomegaly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Vater association with macrocephaly and ventriculomegaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal hamartomas nephroblastomatosis and fetal gigantism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal hamartomas nephroblastomatosis and fetal gigantism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, lactic acidosis, and sideroblastic anemia 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microtia, hearing impairment, and cleft palate Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microtia, hearing impairment, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ichthyosis, spastic quadriplegia, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ichthyosis, spastic quadriplegia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypermanganesemia with dystonia, polycythemia and cirrhosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypermanganesemia with dystonia, polycythemia and cirrhosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined cellular and humoral immune defects with granulomas Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined cellular and humoral immune defects with granulomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined d-2- and l-2-hydroxyglutaric aciduria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined d-2- and l-2-hydroxyglutaric aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sinoatrial node dysfunction and deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sinoatrial node dysfunction and deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation with language impairment and autistic features Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation with language impairment and autistic features phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Warts, hypogammaglobulinemia, infections, and myelokathexis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Warts, hypogammaglobulinemia, infections, and myelokathexis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fibular hypoplasia and complex brachydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fibular hypoplasia and complex brachydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, anterior maxillary protrusion, and strabismus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, anterior maxillary protrusion, and strabismus 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. |
Short stature, optic nerve atrophy, and pelger-huet anomaly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short stature, optic nerve atrophy, and pelger-huet anomaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alzheimer disease, familial, 3, with spastic paraparesis and apraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Insulin-resistant diabetes mellitus AND acanthosis nigricans Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Insulin-resistant diabetes mellitus AND acanthosis nigricans 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. |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness with labyrinthine aplasia microtia and microdontia (LAMM) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness with labyrinthine aplasia microtia and microdontia (LAMM) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple Cutaneous and Mucosal Venous Malformations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple Cutaneous and Mucosal Venous Malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neuropathy hereditary sensory and autonomic type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neuropathy hereditary sensory and autonomic type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly with mental retardation and digital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly with mental retardation and digital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peripheral neuropathy, myopathy, hoarseness, and hearing loss Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth retardation, developmental delay, coarse facies, and early death Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth retardation, developmental delay, coarse facies, and early death phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anemia sideroblastic and spinocerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anemia sideroblastic and spinocerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Facial dysmorphism, immunodeficiency, livedo, and short stature Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Facial dysmorphism, immunodeficiency, livedo, and short stature phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, congenital heart defects, and posterior embryotoxon Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, congenital heart defects, and posterior embryotoxon phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infertility associated with multi-tailed spermatozoa and excessive DNA Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infertility associated with multi-tailed spermatozoa and excessive DNA phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Iris coloboma with ptosis, hypertelorism, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Iris coloboma with ptosis, hypertelorism, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mullerian aplasia and hyperandrogenism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mullerian aplasia and hyperandrogenism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy with early-onset paget disease and frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multicentric osteolysis, nodulosis and arthropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multicentric osteolysis, nodulosis and arthropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stapes ankylosis with broad thumb and toes Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stapes ankylosis with broad thumb and toes phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corneal dystrophy and perceptive deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corneal dystrophy and perceptive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, lactic acidosis, and sideroblastic anemia 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neuropathy, hereditary motor and sensory, Okinawa type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neuropathy, hereditary motor and sensory, Okinawa type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, short stature, and impaired glucose metabolism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, short stature, and impaired glucose metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemorrhagic destruction of the brain, subependymal calcification, and cataracts phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macrocephaly, alopecia, cutis laxa, and scoliosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Macrocephaly, alopecia, cutis laxa, and scoliosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypomyelination and Congenital Cataract Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypomyelination and Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hirschsprung disease, cardiac defects, and autonomic dysfunction Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hirschsprung disease, cardiac defects, and autonomic dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cardiomyopathy dilated with woolly hair and keratoderma Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cardiomyopathy dilated with woolly hair and keratoderma phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arthrogryposis, renal dysfunction, and cholestasis 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arthrogryposis, renal dysfunction, and cholestasis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract and cardiomyopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract and cardiomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, microphthalmia and nystagmus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, microphthalmia and nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Foveal hypoplasia and anterior segment dysgenesis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Foveal hypoplasia and anterior segment dysgenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |