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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 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. |
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. |
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. |
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. |
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. |
Marfan's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marfan Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Marfan Syndrome from the curated CTD Gene-Disease Associations dataset. |
marfan syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease marfan syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
marfan syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease marfan syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
ectopia lentis; marfan syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ectopia lentis; marfan syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
marfan syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease marfan syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
marfan syndrome; mitral valve prolapse Gene SetFrom GAD Gene-Disease Associations genes associated with the disease marfan syndrome; mitral valve prolapse in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
connective tissue diseases; ectopia lentis; marfan syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease connective tissue diseases; ectopia lentis; marfan syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aneurysm, dissecting; aortic aneurysm; cardiovascular diseases; hyperhomocysteinemia; marfan syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aneurysm, dissecting; aortic aneurysm; cardiovascular diseases; hyperhomocysteinemia; marfan syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Marfan Syndrome Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Marfan Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
marfan syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the marfan syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
Marfan syndrome Gene SetFrom PhosphoSitePlus Phosphosite-Disease Associations proteins associated with the disease Marfan syndrome from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset. |
Marfan Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Marfan Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Marfan syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Marfan syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Marfan syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Marfan syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Marfan syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Marfan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe aortic features in Marfan syndrome Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe aortic features in Marfan syndrome phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
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. |
marfan phenotype Gene SetFrom GAD Gene-Disease Associations genes associated with the disease marfan phenotype in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
marfan Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term marfan in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
MARFAN SYNDR Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the MARFAN SYNDR 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. |
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. |
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 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. |
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. |
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. |
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. |
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 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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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 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. |
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. |
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. |
?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. |
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. |
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. |
{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. |
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. |
{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. |
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. |
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 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 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 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. |
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 seizure Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal seizure phenotype from the curated ClinVar Gene-Phenotype Associations 2025 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 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 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 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. |
Lynch syndrome:Turcot syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome and Noonan-related syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
IFAP syndrome with or without BRESHECK syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the IFAP syndrome with or without BRESHECK syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome I:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome I:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Miller-McKusick-Malvaux-Syndrome (3M Syndrome) from the curated CTD Gene-Disease Associations dataset. |
Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 from the curated CTD Gene-Disease Associations dataset. |
menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cornelia de lange syndrome; de lange syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cornelia de lange syndrome; de lange syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatigue syndrome, chronic; fatigue syndrome; postviral Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
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. |
diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
digeorge syndrome/velocardiofacial syndrome complex-2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the digeorge syndrome/velocardiofacial syndrome complex-2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ifap syndrome with or without bresheck syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the ifap syndrome with or without bresheck syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Crouzon syndrome-acanthosis nigricans syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Crouzon syndrome-acanthosis nigricans syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Noonan syndrome and Noonan-related syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Crouzon syndrome-acanthosis nigricans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
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. |
visceral fat deposits and the metabolic syndrome Gene SetFrom Biocarta Pathways proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset. |
Branchiootic syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branchiootic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome, type 3, with hypocalciuria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome, type 3, with hypocalciuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple synostoses syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple synostoses syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sjögren-Larsson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sjögren-Larsson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hennekam lymphangiectasia-lymphedema syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hennekam lymphangiectasia-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
UV-sensitive syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the UV-sensitive syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Foveal hypoplasia and presenile cataract syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Foveal hypoplasia and presenile cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short rib-polydactyly syndrome, Majewski type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short rib-polydactyly syndrome, Majewski type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Char syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Char syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fragile X syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fragile X syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Shwachman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Shwachman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Greig cephalopolysyndactyly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Greig cephalopolysyndactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Melnick-Fraser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Melnick-Fraser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Melnick-Needles syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Melnick-Needles syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Branchiootorenal syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branchiootorenal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
PTEN hamartoma tumor syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the PTEN hamartoma tumor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lesch-Nyhan syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lesch-Nyhan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oculofaciocardiodental syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oculofaciocardiodental syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Robinow Sorauf syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Robinow Sorauf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
17q2131 microdeletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 17q2131 microdeletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Desbuquois syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Desbuquois syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macrocephaly/autism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Macrocephaly/autism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mohr-Tranebjaerg syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mohr-Tranebjaerg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osteopenic nonfracture syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteopenic nonfracture syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Barakat syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Barakat syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Raine syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Raine syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Digitorenocerebral syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Digitorenocerebral syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bare Lymphocyte Syndrome, Type II, Complementation Group D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bare Lymphocyte Syndrome, Type II, Complementation Group D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ataxia-telangiectasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ataxia-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alport syndrome, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alport syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alstrom syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alstrom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperinsulinism-hyperammonemia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperinsulinism-hyperammonemia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal multiple pterygium syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal multiple pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MORM syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MORM syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Upshaw-Schulman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Upshaw-Schulman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Martsolf syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Martsolf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1J Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1J phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chromosome 2q32-q33 deletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chromosome 2q32-q33 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Blepharophimosis-ptosis-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Blepharophimosis-ptosis-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Borrone Di Rocco Crovato syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Borrone Di Rocco Crovato syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hurler syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hurler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Angelman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Angelman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lig4 syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lig4 syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 4B, MNGIE type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 4B, MNGIE type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rubinstein-Taybi syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rubinstein-Taybi syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hajdu-Cheney syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hajdu-Cheney syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperferritinemia cataract syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperferritinemia cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Temtamy preaxial brachydactyly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Temtamy preaxial brachydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperimmunoglobulin E syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperimmunoglobulin E syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bannayan-Riley-Ruvalcaba syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bannayan-Riley-Ruvalcaba syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chudley-McCullough syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chudley-McCullough syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Poretti-boltshauser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Poretti-boltshauser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bosch-boonstra-schaaf optic atrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bosch-boonstra-schaaf optic atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Frank Ter Haar syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frank Ter Haar syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Androgen resistance syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Androgen resistance syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypoparathyroidism retardation dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypoparathyroidism retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Holt-Oram syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Holt-Oram syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Duane syndrome type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Duane syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Young Simpson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Young Simpson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Frasier syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frasier syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
C-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the C-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meier-Gorlin syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meier-Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pili torti-deafness syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pili torti-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gorlin syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marshall syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marshall syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carpenter syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carpenter syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bernard-Soulier syndrome, type A2, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bernard-Soulier syndrome, type A2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Duane-radial ray syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Duane-radial ray syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 19 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
22q133 deletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 22q133 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutis laxa-corneal clouding-oligophrenia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutis laxa-corneal clouding-oligophrenia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniofacial anomalies and anterior segment dysgenesis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
TNF receptor-associated periodic fever syndrome (TRAPS) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the TNF receptor-associated periodic fever syndrome (TRAPS) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Waardenburg syndrome type 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Waardenburg syndrome type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Steel syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Steel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chromosome 1q43-q44 deletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chromosome 1q43-q44 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Roberts-SC phocomelia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Roberts-SC phocomelia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bloom syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bloom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
McLeod neuroacanthocytosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the McLeod neuroacanthocytosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebrooculofacioskeletal syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebrooculofacioskeletal syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebrooculofacioskeletal syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebrooculofacioskeletal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nicolaides-Baraitser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nicolaides-Baraitser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nager syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nager syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chédiak-Higashi syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chédiak-Higashi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kindler's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kindler's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnevale syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnevale syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kenny syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kenny syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Episodic pain syndrome, familial, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Episodic pain syndrome, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rienhoff syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rienhoff syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Weaver syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Weaver syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectodermal dysplasia/short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia/short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Siderius X-linked mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Siderius X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lymphoproliferative syndrome, ebv-associated, autosomal, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lymphoproliferative syndrome, ebv-associated, autosomal, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kohlschutter's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kohlschutter's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation with marfanoid habitus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation with marfanoid habitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebro-oculo-facio-skeletal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebro-oculo-facio-skeletal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypotrichosis-lymphedema-telangiectasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypotrichosis-lymphedema-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
LEOPARD syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LEOPARD syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Treacher collins syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Treacher collins syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Wiskott-Aldrich syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Wiskott-Aldrich syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Episodic pain syndrome, familial, 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Episodic pain syndrome, familial, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyper-IgE syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyper-IgE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tourette Syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tourette Syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macrocephaly, macrosomia, facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Macrocephaly, macrosomia, facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome antenatal type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome antenatal type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome antenatal type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome antenatal type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gamstorp-Wohlfart syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gamstorp-Wohlfart syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Turcot syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sick sinus syndrome 2, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sick sinus syndrome 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyaline fibromatosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyaline fibromatosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alopecia, neurologic defects, and endocrinopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Weill-Marchesani-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Weill-Marchesani-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Netherton syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Netherton syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome, type 4b Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome, type 4b phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Feingold syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Feingold syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Knuckle pads, deafness AND leukonychia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Knuckle pads, deafness AND leukonychia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Waardenburg syndrome type 4B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Waardenburg syndrome type 4B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Richieri Costa Pereira syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Richieri Costa Pereira syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoimmune lymphoproliferative syndrome, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoimmune lymphoproliferative syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, fast-channel Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, fast-channel phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Wilson-Turner X-linked mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Wilson-Turner X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Costello syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Costello syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ochoa syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ochoa syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bruck syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bruck syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bruck syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bruck syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Achalasia-alacrima syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Achalasia-alacrima syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cryptophthalmos syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cryptophthalmos syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nijmegen breakage syndrome-like disorder Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nijmegen breakage syndrome-like disorder phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ovarian hyperstimulation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ovarian hyperstimulation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Otofaciocervical syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Otofaciocervical syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kaufman oculocerebrofacial syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kaufman oculocerebrofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome, type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome, type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Branchiooculofacial syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branchiooculofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Karak syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Karak syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky Pudlak syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky Pudlak syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tarsal carpal coalition syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tarsal carpal coalition syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jankovic Rivera syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jankovic Rivera syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nakajo syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nakajo syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chromosome Xq28 deletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chromosome Xq28 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fanconi-Bickel syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fanconi-Bickel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
short QT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the short QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Smith-Lemli-Opitz syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Smith-Lemli-Opitz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Von Hippel-Lindau syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Von Hippel-Lindau syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1G Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1G phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome progeroid type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome progeroid type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Larsen syndrome, dominant type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Larsen syndrome, dominant type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, musculocontractural type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, musculocontractural type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Temtamy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Temtamy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Birk Barel mental retardation dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Birk Barel mental retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alport syndrome, X-linked recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alport syndrome, X-linked recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adenomatous polyposis coli:Gardner syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adenomatous polyposis coli:Gardner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jervell and Lange-Nielsen syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jervell and Lange-Nielsen syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contracture syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contracture syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leprechaunism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leprechaunism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Simpson-Golabi-Behmel syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Simpson-Golabi-Behmel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
XFE progeroid syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the XFE progeroid syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leigh syndrome due to mitochondrial complex I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dysequilibrium syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dysequilibrium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atypical hemolytic-uremic syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atypical hemolytic-uremic syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atypical hemolytic-uremic syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atypical hemolytic-uremic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Johanson-Blizzard syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Johanson-Blizzard syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
GRACILE syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the GRACILE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked lymphoproliferative syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked lymphoproliferative syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kowarski syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kowarski syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ADULT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ADULT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel-Gruber syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel-Gruber syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked lymphoproliferative syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked lymphoproliferative syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neutrophil immunodeficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neutrophil immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coffin-Lowry syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coffin-Lowry syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, hydroxylysine-deficient Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, hydroxylysine-deficient phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pierson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pierson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pfeiffer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pfeiffer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tricho-dento-osseous syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tricho-dento-osseous syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mowat-Wilson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mowat-Wilson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Perrault syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Perrault syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jensen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jensen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Werner syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Werner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aarskog syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aarskog syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Enamel-renal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Enamel-renal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 21 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 20 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 22 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple synostoses syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple synostoses syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Popliteal pterygium syndrome lethal type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Popliteal pterygium syndrome lethal type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Keutel syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Keutel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pitt-Hopkins syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pitt-Hopkins syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Segawa syndrome, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Segawa syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple pterygium syndrome Escobar type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple pterygium syndrome Escobar type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pitt-Hopkins-like syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pitt-Hopkins-like syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pitt-Hopkins-like syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pitt-Hopkins-like syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital short bowel syndrome, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital short bowel syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
C syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the C syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Klippel-Feil syndrome 2, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Klippel-Feil syndrome 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stiff skin syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stiff skin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lenz microphthalmia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lenz microphthalmia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive hypohidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marshall/Stickler syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marshall/Stickler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Schwartz Jampel syndrome type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Schwartz Jampel syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Grebe syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Grebe syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Saethre-Chotzen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Saethre-Chotzen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, slow-channel congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, slow-channel congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Floating-Harbor syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Floating-Harbor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Warburg micro syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Warburg micro syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Warburg micro syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Warburg micro syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Warburg micro syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Warburg micro syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osler hemorrhagic telangiectasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osler hemorrhagic telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Wieacker syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Wieacker syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kabuki make-up syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kabuki make-up syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cohen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cohen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oligodontia-colorectal cancer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oligodontia-colorectal cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Filippi syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Filippi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contractural syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contractural syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Primrose syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primrose syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Perrault syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marshall-Smith syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marshall-Smith syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brittle cornea syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brittle cornea syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rotor syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rotor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oral-facial-digital syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oral-facial-digital syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acrocallosal syndrome, Schinzel type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acrocallosal syndrome, Schinzel type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gray platelet syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gray platelet syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mast syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mast syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amish infantile epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amish infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meacham syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meacham syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stormorken syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stormorken syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Opitz-Frias syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Opitz-Frias syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cardio-facio-cutaneous syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cardio-facio-cutaneous syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Yunis Varon syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Yunis Varon syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cowden syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cowden syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mulibrey nanism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mulibrey nanism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ohdo syndrome, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ohdo syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, idiopathic, steroid-resistant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, idiopathic, steroid-resistant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Townes-Brocks-branchiootorenal-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Townes-Brocks-branchiootorenal-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
SeSAME syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the SeSAME syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Odontotrichomelic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Odontotrichomelic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrioventricular septal defect, partial, with heterotaxy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrioventricular septal defect, partial, with heterotaxy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome, type 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome, type 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile liver failure syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile liver failure syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile liver failure syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile liver failure syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lowe syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lowe syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, type 7B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, type 7B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, musculocontractural type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, musculocontractural type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rett syndrome, congenital variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rett syndrome, congenital variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Van Maldergem syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Van Maldergem syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Robinow syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Robinow syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bone marrow failure syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bone marrow failure syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Orofaciodigital syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Orofaciodigital syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Orofaciodigital syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Orofaciodigital syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Distichiasis-lymphedema syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Distichiasis-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Townes syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Townes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neu-Laxova syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neu-Laxova syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Winchester syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Winchester syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Unverricht-Lundborg syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Unverricht-Lundborg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Verheij syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Verheij syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rapp-Hodgkin ectodermal dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rapp-Hodgkin ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Allan-Herndon-Dudley syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Allan-Herndon-Dudley syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Advanced sleep phase syndrome, familial, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Advanced sleep phase syndrome, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sick sinus syndrome 1, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sick sinus syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arterial tortuosity syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arterial tortuosity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Juvenile polyposis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Juvenile polyposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Papillon-Lefèvre syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Papillon-Lefèvre syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brown-vialetto-van laere syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brown-vialetto-van laere syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, epilepsy, and diabetes syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, epilepsy, and diabetes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peters plus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peters plus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ulnar-mammary syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ulnar-mammary syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Insulin-dependent diabetes mellitus secretory diarrhea syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Insulin-dependent diabetes mellitus secretory diarrhea syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Zunich neuroectodermal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Beckwith-Wiedemann syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Beckwith-Wiedemann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Van Maldergem Wetzburger Verloes syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Van Maldergem Wetzburger Verloes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sotos' syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sotos' syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dyggve-Melchior-Clausen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dyggve-Melchior-Clausen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Baraitser-Winter Syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Baraitser-Winter Syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Three M syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Three M syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Howel-Evans syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Howel-Evans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Senior-Loken syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Senior-Loken syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Senior-Loken syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Senior-Loken syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Senior-Loken syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Senior-Loken syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, with tubular aggregates 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with tubular aggregates 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rhabdoid tumor predisposition syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rhabdoid tumor predisposition syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Finnish congenital nephrotic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Finnish congenital nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tatton-Brown-rahman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tatton-Brown-rahman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
COACH syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the COACH syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short rib polydactyly syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short rib polydactyly syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short rib polydactyly syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short rib polydactyly syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Enhanced s-cone syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Enhanced s-cone syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked hydrocephalus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked hydrocephalus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acquired long QT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acquired long QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Van der Woude syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Van der Woude syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cornelia de Lange syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cornelia de Lange syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sudden infant death syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sudden infant death syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dursun syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dursun syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carpenter syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carpenter syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Li-Fraumeni syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Li-Fraumeni syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Haim-Munk syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Haim-Munk syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Knobloch syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Knobloch syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carbohydrate-deficient glycoprotein syndrome type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carbohydrate-deficient glycoprotein syndrome type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Advanced sleep phase syndrome, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Advanced sleep phase syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypoplastic enamel-onycholysis-hypohidrosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypoplastic enamel-onycholysis-hypohidrosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jarcho-Levin syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jarcho-Levin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cornelia de Lange syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cornelia de Lange syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cornelia de Lange syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cornelia de Lange syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cornelia de Lange syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cornelia de Lange syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive Dejerine-Sottas syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive Dejerine-Sottas syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kabuki syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kabuki syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hay-Wells syndrome of ectodermal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hay-Wells syndrome of ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Reynolds syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Reynolds syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glut1 deficiency syndrome 1, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glut1 deficiency syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 12/15, digenic Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 12/15, digenic phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Serkal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Serkal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marinesco-Sjögren syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marinesco-Sjögren syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Seckel syndrome 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Seckel syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Seckel syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Seckel syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neu-laxova syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neu-laxova syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Urofacial syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Urofacial syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gordon's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gordon's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arts syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arts syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
McKusick Kaufman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the McKusick Kaufman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoimmune polyglandular syndrome type 1, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoimmune polyglandular syndrome type 1, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rubinstein-Taybi syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rubinstein-Taybi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 5, with or without ocular abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 5, with or without ocular abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
FG syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the FG syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Polyglandular autoimmune syndrome, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Polyglandular autoimmune syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bernard-Soulier syndrome, type A1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bernard-Soulier syndrome, type A1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arthrogryposis renal dysfunction cholestasis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arthrogryposis renal dysfunction cholestasis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
EEM syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the EEM syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cardiofaciocutaneous syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cardiofaciocutaneous syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
TARP syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the TARP syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Drash syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Drash syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene 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. |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
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. |
Pallister-Hall syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pallister-Hall syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Radial aplasia-thrombocytopenia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Radial aplasia-thrombocytopenia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Griscelli syndrome type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Griscelli syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Griscelli syndrome type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Griscelli syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Caudal regression syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Caudal regression syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Catel Manzke syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Catel Manzke syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Trichohepatoenteric syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Trichohepatoenteric syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cockayne syndrome type A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cockayne syndrome type A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Warsaw breakage syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Warsaw breakage syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 15 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Popliteal pterygium syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Popliteal pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
SHORT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the SHORT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jervell and Lange-Nielsen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jervell and Lange-Nielsen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bainbridge-Ropers syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bainbridge-Ropers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Orofaciodigital syndrome xiv Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Orofaciodigital syndrome xiv phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leigh syndrome, French Canadian type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome, French Canadian type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bent bone dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bent bone dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pachydermoperiostosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pachydermoperiostosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Crouzon syndrome with acanthosis nigricans Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Crouzon syndrome with acanthosis nigricans phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leigh syndrome due to mitochondrial complex II deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nance-Horan syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nance-Horan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple mitochondrial dysfunctions syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple mitochondrial dysfunctions syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple mitochondrial dysfunctions syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple mitochondrial dysfunctions syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Saethre-Chotzen syndrome with eyelid anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Saethre-Chotzen syndrome with eyelid anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gerstmann-Straussler-Scheinker syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gerstmann-Straussler-Scheinker syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Curry-Hall syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Curry-Hall syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial multiple polyposis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial multiple polyposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kartagener syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kartagener syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutis Gyrata syndrome of Beare and Stevenson Gene 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. |
Donnai Barrow syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Donnai Barrow syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Klippel-Feil syndrome 1, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Klippel-Feil syndrome 1, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dubin-Johnson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dubin-Johnson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Riddle syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Riddle syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cold-induced sweating syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cold-induced sweating syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oto-palato-digital syndrome, type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oto-palato-digital syndrome, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cockayne syndrome, type B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cockayne syndrome, type B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Wagner syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Wagner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Schinzel-Giedion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Schinzel-Giedion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bowen-Conradi syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bowen-Conradi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ATR-X syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ATR-X syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gardner syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gardner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Baller-Gerold syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Baller-Gerold syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypocalcemia, autosomal dominant 1, with bartter syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypocalcemia, autosomal dominant 1, with bartter syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondylocarpotarsal synostosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondylocarpotarsal synostosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
LONG QT SYNDROME 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LONG QT SYNDROME 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal coloboma syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal coloboma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Menkes kinky-hair syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Menkes kinky-hair syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Legius syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Legius syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Andermann syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Andermann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome, type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Michels syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Michels syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stocco dos Santos syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stocco dos Santos syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sotos syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sotos syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lenz-Majewski hyperostosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lenz-Majewski hyperostosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Axenfeld-Rieger syndrome type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Axenfeld-Rieger syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Axenfeld-Rieger syndrome type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Axenfeld-Rieger syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contracture syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contracture syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitchell-Riley syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitchell-Riley syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tietz syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tietz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Prune belly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prune belly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alagille syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alagille syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alagille syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alagille syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mosaic variegated aneuploidy syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mosaic variegated aneuploidy syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Christianson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Christianson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Erythrocytosis, familial, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Erythrocytosis, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Histiocytosis-lymphadenopathy plus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Histiocytosis-lymphadenopathy plus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Skin fragility woolly hair syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Skin fragility woolly hair syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortical dysplasia-focal epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortical dysplasia-focal epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondylocheirodysplasia, Ehlers-Danlos syndrome-like phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital long QT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital long QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Three M syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Three M syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Symphalangism-brachydactyly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Symphalangism-brachydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rhabdoid tumor predisposition syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rhabdoid tumor predisposition syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Treacher collins syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Treacher collins syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Trichorhinophalangeal syndrome type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Trichorhinophalangeal syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Enlarged vestibular aqueduct syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Enlarged vestibular aqueduct syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Temple-Baraitser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Temple-Baraitser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Boucher Neuhauser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Boucher Neuhauser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stuve-Wiedemann syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stuve-Wiedemann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Polyendocrine-polyneuropathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Polyendocrine-polyneuropathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adams-Oliver syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adams-Oliver syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adams-Oliver syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adams-Oliver syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adams-Oliver syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adams-Oliver syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adams-Oliver syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adams-Oliver syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoimmune lymphoproliferative syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoimmune lymphoproliferative syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucose transporter type 1 deficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucose transporter type 1 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Perry syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perry syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Freeman-Sheldon syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Freeman-Sheldon syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adams-Oliver syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adams-Oliver syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alacrima, achalasia, and mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alacrima, achalasia, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly-capillary malformation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly-capillary malformation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Roussy-Lévy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Roussy-Lévy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
atypical hemolytic-uremic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the atypical hemolytic-uremic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA-depletion syndrome 3, hepatocerebral Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA-depletion syndrome 3, hepatocerebral phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renpenning syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renpenning syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pendred's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pendred's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
FG syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the FG syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cocoon syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cocoon syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hennekam lymphangiectasia-lymphedema syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hennekam lymphangiectasia-lymphedema syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bare lymphocyte syndrome type 2, complementation group E Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bare lymphocyte syndrome type 2, complementation group E phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bare lymphocyte syndrome type 2, complementation group A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bare lymphocyte syndrome type 2, complementation group A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Borjeson-Forssman-Lehmann syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Borjeson-Forssman-Lehmann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rothmund-Thomson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rothmund-Thomson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome, type 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome, type 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 Gene 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. |
Activated PI3K-delta syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Activated PI3K-delta syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Snyder Robinson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Snyder Robinson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Weill-Marchesani syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Weill-Marchesani syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Reifenstein syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Reifenstein syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rapadilino syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rapadilino syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tumor predisposition syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tumor predisposition syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 9/15, digenic Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 9/15, digenic phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency-centromeric instability-facial anomalies syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Scalp ear nipple syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Scalp ear nipple syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Majeed syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Majeed syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutaneous telangiectasia and cancer syndrome, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutaneous telangiectasia and cancer syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aicardi-goutieres syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aicardi-goutieres syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aicardi-goutieres syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aicardi-goutieres syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dejerine-Sottas syndrome, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dejerine-Sottas syndrome, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |