Table 4

Gene-based comparison of gene–disease databases and tools.

TypeNameBRCA1GABRG2OR4F29C19orf80RP11-167P11.3
DatabasesClinVarHereditary cancer-predisposing syndrome; familial breast–ovarian cancer; hereditary breast and ovarian cancer syndrome; neoplasm of the breastChildhood absence epilepsy; familial febrile seizures; severe myoclonic epilepsy in infancy; generalized epilepsy with febrile seizures plusNo resultsNo resultsNo results
CNVDBreast cancer; ovarian cancer; pancreatic cancerBreast cancer; ovarian cancer; pancreatic cancer; myelofibrosisBreast cancer; ovarian cancer; schizophreniaNo resultsNo results
Disease OntologyHereditary breast and ovarian cancerNo resultsNo resultsNo results
DiseaseEnhancerBreast cancerNo resultsNo resultsNo resultsNo results
DISEASESProstate cancer; breast cancer; ovarian cancer; fanconi anemiaGeneralized epilepsy with febrile seizures plus; childhood absence epilepsyHepatocellular carcinomaDiabetes mellitusNo results
GARDHereditary breast and ovarian cancer syndrome; familial breast cancer; ovarian cancer; familial prostate cancer; familial pancreatic cancerEpilepsy with myoclonic-atonic seizuresNo resultsNo resultsNo results
GTRFamilial breast–ovarian cancer;
familial cancer of breast; fanconi anemia complementary group S; hereditary breast and ovarian cancer syndrome; pancreatic cancer
Childhood absence epilepsy; familial febrile seizuresNo resultsNo resultsNo results
miR2DiseaseOvarian disease; breast cancerNo resultsNo resultsNo resultsNo results
OrphanetLethal neonatal spasticity-epileptic encephalopathy syndrome; hereditary breast and ovarian cancer syndrome; uveal melanoma; familial melanoma; fanconi anemia; familial pancreatic carcinoma; familial prostate cancer; primary peritoneal carcinomaDravet syndrome; generalized epilepsy with febrile seizures-plus; rolandic epilepsy; childhood absence epilepsyNo resultsNo resultsNo results
ToolsDisGeNETMalignant neoplasm of breast; familial breast–ovarian cancer; hereditary breast and ovarian cancer syndrome; mammary neoplasms; ovarian neoplasms; familial breast cancer; breast carcinoma; prostate neoplasmsFebrile convulsions; chronic alcoholic intoxication; absence epilepsy; myoclonic epilepsies; generalized epilepsy with febrile seizures plus; hepatic encephalopathy; schizophreniaNo resultsNo resultsNo results
HGMDBreast cancer; ovarian cancer; ovarian carcinomaGeneralized epilepsy with febrile seizures plus; epilepsy, childhood absence with febrile seizures; idiopathic generalized epilepsyNo resultsNo resultsNo results
Gene2FunctionPancreatic cancer; familial breast–ovarian cancerGeneralized epilepsy with febrile seizures plus; childhood absence epilepsy; familial febrile seizures; post bronchodilator; cognitive impairment; severe influenza ASubjective response to lithium treatmentHDL cholesterolNo results
SwissVarBreast cancer; familial breast–ovarian cancer, ovarian cancer; pancreatic cancer, fanconi anemia, complementation group SChildhood absence epilepsy; familial febrile seizures; generalized epilepsy with febrile seizures plusNo resultsInsulin-dependent diabetes mellitus; non-insulin-dependent diabetes mellitusNo results
eDGARBreast cancer; ovarian cancer; pancreatic cancer; familial breast–ovarian cancer; fanconi anemiaChildhood absence epilepsy; familial febrile seizures; generalized epilepsy with febrile seizures plusNo resultsNo resultsNo results
GeneAlaCartLynch syndrome; breast cancer; colorectal cancerGeneralized idiopathic epilepsy; Angelman syndrome; febrile seizuresNo resultsDiabetes mellitus; breast sarcoma; insulin-dependent diabetes mellitusNo results
TypeNameBRCA1GABRG2OR4F29C19orf80RP11-167P11.3
DatabasesClinVarHereditary cancer-predisposing syndrome; familial breast–ovarian cancer; hereditary breast and ovarian cancer syndrome; neoplasm of the breastChildhood absence epilepsy; familial febrile seizures; severe myoclonic epilepsy in infancy; generalized epilepsy with febrile seizures plusNo resultsNo resultsNo results
CNVDBreast cancer; ovarian cancer; pancreatic cancerBreast cancer; ovarian cancer; pancreatic cancer; myelofibrosisBreast cancer; ovarian cancer; schizophreniaNo resultsNo results
Disease OntologyHereditary breast and ovarian cancerNo resultsNo resultsNo results
DiseaseEnhancerBreast cancerNo resultsNo resultsNo resultsNo results
DISEASESProstate cancer; breast cancer; ovarian cancer; fanconi anemiaGeneralized epilepsy with febrile seizures plus; childhood absence epilepsyHepatocellular carcinomaDiabetes mellitusNo results
GARDHereditary breast and ovarian cancer syndrome; familial breast cancer; ovarian cancer; familial prostate cancer; familial pancreatic cancerEpilepsy with myoclonic-atonic seizuresNo resultsNo resultsNo results
GTRFamilial breast–ovarian cancer;
familial cancer of breast; fanconi anemia complementary group S; hereditary breast and ovarian cancer syndrome; pancreatic cancer
Childhood absence epilepsy; familial febrile seizuresNo resultsNo resultsNo results
miR2DiseaseOvarian disease; breast cancerNo resultsNo resultsNo resultsNo results
OrphanetLethal neonatal spasticity-epileptic encephalopathy syndrome; hereditary breast and ovarian cancer syndrome; uveal melanoma; familial melanoma; fanconi anemia; familial pancreatic carcinoma; familial prostate cancer; primary peritoneal carcinomaDravet syndrome; generalized epilepsy with febrile seizures-plus; rolandic epilepsy; childhood absence epilepsyNo resultsNo resultsNo results
ToolsDisGeNETMalignant neoplasm of breast; familial breast–ovarian cancer; hereditary breast and ovarian cancer syndrome; mammary neoplasms; ovarian neoplasms; familial breast cancer; breast carcinoma; prostate neoplasmsFebrile convulsions; chronic alcoholic intoxication; absence epilepsy; myoclonic epilepsies; generalized epilepsy with febrile seizures plus; hepatic encephalopathy; schizophreniaNo resultsNo resultsNo results
HGMDBreast cancer; ovarian cancer; ovarian carcinomaGeneralized epilepsy with febrile seizures plus; epilepsy, childhood absence with febrile seizures; idiopathic generalized epilepsyNo resultsNo resultsNo results
Gene2FunctionPancreatic cancer; familial breast–ovarian cancerGeneralized epilepsy with febrile seizures plus; childhood absence epilepsy; familial febrile seizures; post bronchodilator; cognitive impairment; severe influenza ASubjective response to lithium treatmentHDL cholesterolNo results
SwissVarBreast cancer; familial breast–ovarian cancer, ovarian cancer; pancreatic cancer, fanconi anemia, complementation group SChildhood absence epilepsy; familial febrile seizures; generalized epilepsy with febrile seizures plusNo resultsInsulin-dependent diabetes mellitus; non-insulin-dependent diabetes mellitusNo results
eDGARBreast cancer; ovarian cancer; pancreatic cancer; familial breast–ovarian cancer; fanconi anemiaChildhood absence epilepsy; familial febrile seizures; generalized epilepsy with febrile seizures plusNo resultsNo resultsNo results
GeneAlaCartLynch syndrome; breast cancer; colorectal cancerGeneralized idiopathic epilepsy; Angelman syndrome; febrile seizuresNo resultsDiabetes mellitus; breast sarcoma; insulin-dependent diabetes mellitusNo results
Table 4

Gene-based comparison of gene–disease databases and tools.

TypeNameBRCA1GABRG2OR4F29C19orf80RP11-167P11.3
DatabasesClinVarHereditary cancer-predisposing syndrome; familial breast–ovarian cancer; hereditary breast and ovarian cancer syndrome; neoplasm of the breastChildhood absence epilepsy; familial febrile seizures; severe myoclonic epilepsy in infancy; generalized epilepsy with febrile seizures plusNo resultsNo resultsNo results
CNVDBreast cancer; ovarian cancer; pancreatic cancerBreast cancer; ovarian cancer; pancreatic cancer; myelofibrosisBreast cancer; ovarian cancer; schizophreniaNo resultsNo results
Disease OntologyHereditary breast and ovarian cancerNo resultsNo resultsNo results
DiseaseEnhancerBreast cancerNo resultsNo resultsNo resultsNo results
DISEASESProstate cancer; breast cancer; ovarian cancer; fanconi anemiaGeneralized epilepsy with febrile seizures plus; childhood absence epilepsyHepatocellular carcinomaDiabetes mellitusNo results
GARDHereditary breast and ovarian cancer syndrome; familial breast cancer; ovarian cancer; familial prostate cancer; familial pancreatic cancerEpilepsy with myoclonic-atonic seizuresNo resultsNo resultsNo results
GTRFamilial breast–ovarian cancer;
familial cancer of breast; fanconi anemia complementary group S; hereditary breast and ovarian cancer syndrome; pancreatic cancer
Childhood absence epilepsy; familial febrile seizuresNo resultsNo resultsNo results
miR2DiseaseOvarian disease; breast cancerNo resultsNo resultsNo resultsNo results
OrphanetLethal neonatal spasticity-epileptic encephalopathy syndrome; hereditary breast and ovarian cancer syndrome; uveal melanoma; familial melanoma; fanconi anemia; familial pancreatic carcinoma; familial prostate cancer; primary peritoneal carcinomaDravet syndrome; generalized epilepsy with febrile seizures-plus; rolandic epilepsy; childhood absence epilepsyNo resultsNo resultsNo results
ToolsDisGeNETMalignant neoplasm of breast; familial breast–ovarian cancer; hereditary breast and ovarian cancer syndrome; mammary neoplasms; ovarian neoplasms; familial breast cancer; breast carcinoma; prostate neoplasmsFebrile convulsions; chronic alcoholic intoxication; absence epilepsy; myoclonic epilepsies; generalized epilepsy with febrile seizures plus; hepatic encephalopathy; schizophreniaNo resultsNo resultsNo results
HGMDBreast cancer; ovarian cancer; ovarian carcinomaGeneralized epilepsy with febrile seizures plus; epilepsy, childhood absence with febrile seizures; idiopathic generalized epilepsyNo resultsNo resultsNo results
Gene2FunctionPancreatic cancer; familial breast–ovarian cancerGeneralized epilepsy with febrile seizures plus; childhood absence epilepsy; familial febrile seizures; post bronchodilator; cognitive impairment; severe influenza ASubjective response to lithium treatmentHDL cholesterolNo results
SwissVarBreast cancer; familial breast–ovarian cancer, ovarian cancer; pancreatic cancer, fanconi anemia, complementation group SChildhood absence epilepsy; familial febrile seizures; generalized epilepsy with febrile seizures plusNo resultsInsulin-dependent diabetes mellitus; non-insulin-dependent diabetes mellitusNo results
eDGARBreast cancer; ovarian cancer; pancreatic cancer; familial breast–ovarian cancer; fanconi anemiaChildhood absence epilepsy; familial febrile seizures; generalized epilepsy with febrile seizures plusNo resultsNo resultsNo results
GeneAlaCartLynch syndrome; breast cancer; colorectal cancerGeneralized idiopathic epilepsy; Angelman syndrome; febrile seizuresNo resultsDiabetes mellitus; breast sarcoma; insulin-dependent diabetes mellitusNo results
TypeNameBRCA1GABRG2OR4F29C19orf80RP11-167P11.3
DatabasesClinVarHereditary cancer-predisposing syndrome; familial breast–ovarian cancer; hereditary breast and ovarian cancer syndrome; neoplasm of the breastChildhood absence epilepsy; familial febrile seizures; severe myoclonic epilepsy in infancy; generalized epilepsy with febrile seizures plusNo resultsNo resultsNo results
CNVDBreast cancer; ovarian cancer; pancreatic cancerBreast cancer; ovarian cancer; pancreatic cancer; myelofibrosisBreast cancer; ovarian cancer; schizophreniaNo resultsNo results
Disease OntologyHereditary breast and ovarian cancerNo resultsNo resultsNo results
DiseaseEnhancerBreast cancerNo resultsNo resultsNo resultsNo results
DISEASESProstate cancer; breast cancer; ovarian cancer; fanconi anemiaGeneralized epilepsy with febrile seizures plus; childhood absence epilepsyHepatocellular carcinomaDiabetes mellitusNo results
GARDHereditary breast and ovarian cancer syndrome; familial breast cancer; ovarian cancer; familial prostate cancer; familial pancreatic cancerEpilepsy with myoclonic-atonic seizuresNo resultsNo resultsNo results
GTRFamilial breast–ovarian cancer;
familial cancer of breast; fanconi anemia complementary group S; hereditary breast and ovarian cancer syndrome; pancreatic cancer
Childhood absence epilepsy; familial febrile seizuresNo resultsNo resultsNo results
miR2DiseaseOvarian disease; breast cancerNo resultsNo resultsNo resultsNo results
OrphanetLethal neonatal spasticity-epileptic encephalopathy syndrome; hereditary breast and ovarian cancer syndrome; uveal melanoma; familial melanoma; fanconi anemia; familial pancreatic carcinoma; familial prostate cancer; primary peritoneal carcinomaDravet syndrome; generalized epilepsy with febrile seizures-plus; rolandic epilepsy; childhood absence epilepsyNo resultsNo resultsNo results
ToolsDisGeNETMalignant neoplasm of breast; familial breast–ovarian cancer; hereditary breast and ovarian cancer syndrome; mammary neoplasms; ovarian neoplasms; familial breast cancer; breast carcinoma; prostate neoplasmsFebrile convulsions; chronic alcoholic intoxication; absence epilepsy; myoclonic epilepsies; generalized epilepsy with febrile seizures plus; hepatic encephalopathy; schizophreniaNo resultsNo resultsNo results
HGMDBreast cancer; ovarian cancer; ovarian carcinomaGeneralized epilepsy with febrile seizures plus; epilepsy, childhood absence with febrile seizures; idiopathic generalized epilepsyNo resultsNo resultsNo results
Gene2FunctionPancreatic cancer; familial breast–ovarian cancerGeneralized epilepsy with febrile seizures plus; childhood absence epilepsy; familial febrile seizures; post bronchodilator; cognitive impairment; severe influenza ASubjective response to lithium treatmentHDL cholesterolNo results
SwissVarBreast cancer; familial breast–ovarian cancer, ovarian cancer; pancreatic cancer, fanconi anemia, complementation group SChildhood absence epilepsy; familial febrile seizures; generalized epilepsy with febrile seizures plusNo resultsInsulin-dependent diabetes mellitus; non-insulin-dependent diabetes mellitusNo results
eDGARBreast cancer; ovarian cancer; pancreatic cancer; familial breast–ovarian cancer; fanconi anemiaChildhood absence epilepsy; familial febrile seizures; generalized epilepsy with febrile seizures plusNo resultsNo resultsNo results
GeneAlaCartLynch syndrome; breast cancer; colorectal cancerGeneralized idiopathic epilepsy; Angelman syndrome; febrile seizuresNo resultsDiabetes mellitus; breast sarcoma; insulin-dependent diabetes mellitusNo results
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