| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
30040709 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Angina Pectoris |
Angina pectoris |
Pubtator |
35328073 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
28050007 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
29414393 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
22692071, 24437375, 25300428, 26782384 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy Dilated |
Dilated cardiomyopathy |
Pubtator |
32396277 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy, Dilated |
Cardiomyopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Acute Myeloid Leukemia |
Acute Myeloid Leukemia |
BEFREE |
31119613 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognition disorder |
Pubtator |
29237403 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
8600309 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
Pubtator |
35328073 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deglutition Disorders |
Dysphagia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental regression |
Developmental regression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes mellitus |
Pubtator |
34724985 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
23133645, 35328073 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Down Syndrome |
Down Syndrome |
BEFREE |
10666677 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyskinetic syndrome |
Dyskinetic Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dystonia Disorders |
Dystonia |
BEFREE |
17152068 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalopathies |
Epileptic encephalopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsia Partialis Continua |
Epilepsia Partialis Continua |
BEFREE |
19520270, 27742419 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver |
Fatty Liver |
BEFREE |
24020820 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Generalized myoclonic seizures |
Myoclonic Seizures |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| High altitude pulmonary edema |
High Altitude Pulmonary Edema |
BEFREE |
31358833 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophic Cardiomyopathy |
Hypertrophic cardiomyopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoglycemia |
Hypoglycemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| LEBER OPTIC ATROPHY AND DYSTONIA |
Leber Plus Disease |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Leber plus disease |
Leber Plus Disease |
ORPHANET_DG |
19458970 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Leigh Disease |
Leigh Syndrome |
CLINVAR_DG |
11456298, 14684687, 14705112, 14764913, 15576045, 16023078, 17152068, 17535832, 19458970, 20202874, 25118196 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Leigh Disease |
Leigh Syndrome |
BEFREE |
14764913, 16023078, 16044424, 17152068, 19458970, 24284231, 25118196, 31105631, 31178082 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Leigh Disease |
Leigh Syndrome |
LHGDN |
14764913, 16023078, 17152068 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Leigh Disease |
Leigh Syndrome |
UNIPROT_DG |
17152068 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Leigh Disease |
Leigh syndrome |
Pubtator |
32371897, 36093993 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Leukodystrophy |
Leukodystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukoencephalopathy |
Leukoencephalopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Failure |
Liver failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
30275759 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
29414393 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
30275759 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Maternally Inherited Leigh Syndrome |
Maternally Inherited Leigh Syndrome |
ORPHANET_DG |
16023078, 20202874, 22364517 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Maternally Inherited Leigh Syndrome |
Maternally Inherited Leigh Syndrome |
BEFREE |
20202874 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MELAS Syndrome |
Melas syndrome |
Pubtator |
28050007 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MELAS Syndrome |
MELAS Syndrome |
BEFREE |
31178082 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MITOCHONDRIAL COMPLEX I DEFICIENCY |
Mitochondrial Complex Deficiency |
ORPHANET_DG |
14705112 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial complex I deficiency |
Mitochondrial complex deficiency |
Pubtator |
35715829 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 |
Mitochondrial Complex Deficiency |
UNIPROT_DG |
11456298, 14705112, 20818383 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 |
Mitochondrial Complex Deficiency |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial Diseases |
Mitochondrial Diseases |
BEFREE |
19520270, 27742419, 29237403 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
29237403 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial encephalopathy |
Mitochondrial encephalopathy |
BEFREE |
14705112 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Myopathies |
Mitochondrial myopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple sclerosis |
Pubtator |
35130313 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
12353267, 29414393, 8600309 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Diseases |
Neurodegenerative disorder |
Pubtator |
30040709 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
23993954 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
Pubtator |
35328073 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
Pubtator |
12618962, 15827561 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Parkinson Disease |
Parkinson disease |
BEFREE |
15827561 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Peripheral demyelinating neuropathy |
Demyelinating neuropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
24437375 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary edema of mountaineers |
Pulmonary edema |
Pubtator |
31358833 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
8600309 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rod-Cone Dystrophy |
Rod-cone dystrophy |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sensorimotor neuropathy |
Sensorimotor neuropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sporadic Breast Carcinoma |
Breast Carcinoma |
BEFREE |
19266278 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Steatohepatitis |
Fatty Liver |
BEFREE |
24020820 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
30275759 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
30275759 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stroke |
Stroke |
Pubtator |
28050007, 29237403 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tonic - clonic seizures |
Seizure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| West Syndrome |
West Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |