| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Anemia |
Anemia |
Pubtator |
28985901 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia |
Anemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
28133863, 28985901, 32788630 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
30982780 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Ovarian Epithelial |
Ovarian Epithelial carcinoma |
BEFREE |
29238081 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy, Familial Idiopathic |
Cardiomyopathy |
BEFREE |
30982780 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complex Partial Status Epilepticus |
Status Epilepticus |
CTD_human_DG |
19356691 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital chromosomal disease |
Congenital Chromosomal Disease |
BEFREE |
31506944 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalopathies |
Epileptic encephalopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
24114605, 24645144, 26535729, 28818555 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
24645144, 34769443 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy Benign Neonatal |
Benign neonatal epilepsy |
Pubtator |
38284493 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy Generalized |
Generalized epilepsy |
Pubtator |
24645144 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| EPILEPSY, PYRIDOXINE-DEPENDENT |
Epilepsy |
BEFREE |
24658933 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epileptic encephalopathy |
Epileptic encephalopathy |
BEFREE |
19759001 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epileptic encephalopathy |
Epileptic encephalopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epithelial ovarian cancer |
Ovarian cancer |
BEFREE |
29238081 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
GENOMICS_ENGLAND_DG |
15772097 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Grand Mal Status Epilepticus |
Grand Mal Status Epilepticus |
CTD_human_DG |
19356691 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperglycemia |
Hyperglycemia |
BEFREE |
31506944 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
BEFREE |
17143180 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoglycemia |
Hypoglycemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
Pubtator |
39185088 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic generalized epilepsy |
Epilepsy |
BEFREE |
23429546 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infantile Spasm |
Infantile Spasms |
BEFREE |
24645144 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infertility |
Infertility |
Pubtator |
24645144 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Invasive Ductal Breast Carcinoma |
Invasive Duct and Lobular Carcinoma |
BEFREE |
30982780 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
30982780 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
29238081, 9601034 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
29238081, 9601034 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V |
Neuronopathy |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Non-Convulsive Status Epilepticus |
Nonconvulsive status epilepticus |
CTD_human_DG |
19356691 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Petit mal status |
Petit Mal Status |
CTD_human_DG |
19356691 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pyridoxal phosphate-responsive seizures |
Pyridoxal Phosphate-Responsive Seizures |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
UNIPROT_DG |
15772097, 23708187, 27864847 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
GENOMICS_ENGLAND_DG |
15772097, 24266778 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
ORPHANET_DG |
15772097 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
CLINVAR_DG |
20370816, 21292558, 23419474, 24645144, 24658933, 25256445, 27781031, 28985901 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
BEFREE |
31616300 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pyridoxine dependent epilepsy |
Pyridoxine dependent epilepsy |
Pubtator |
28779752 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rotary Nystagmus |
Rotary nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
BEFREE |
17851041 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia |
Schizophrenia |
LHGDN |
17851041 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia |
Schizophrenia |
PSYGENET_DG |
17851041 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Seizures |
Seizures |
Pubtator |
24645144 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spasms Infantile |
Infantile spasms |
Pubtator |
24645144 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Status Epilepticus |
Status Epilepticus |
CTD_human_DG |
19356691 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Status Epilepticus |
Status Epilepticus |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Status Epilepticus, Subclinical |
Status Epilepticus |
CTD_human_DG |
19356691 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| West Syndrome |
West Syndrome |
BEFREE |
24645144 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |