| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Age related macular degeneration |
Age-related macular degeneration |
BEFREE |
18461138, 28813576 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
1352971, 30040709 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia Aplastic |
Aplastic anemia |
Pubtator |
22911596 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety Disorder |
BEFREE |
26418562 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety disorder |
Pubtator |
26418562 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety Disorders |
Anxiety Disorder |
BEFREE |
26418562 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
Pubtator |
22997526 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune disease |
Pubtator |
18708297 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases Metabolic |
Bone disease |
Pubtator |
21762117 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
31577800 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
17121430, 24414975, 31577800 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy, Dilated |
Cardiomyopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebrovascular Disorders |
Cerebrovascular Disorders |
BEFREE |
15680495 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebrovascular Disorders |
Cerebrovascular disorder |
Pubtator |
20035289 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognition disorder |
Pubtator |
24140124 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
26340450 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
26340450 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Disease |
Coronary artery disease |
Pubtator |
28494837 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Degenerative polyarthritis |
Arthritis |
BEFREE |
28192486 |
|
★★★★★★☆☆☆☆ 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 Gestational |
Gestational diabetes |
Pubtator |
25437179 |
Inhibit |
★★★★★★☆☆☆☆ 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 |
18679013, 29997041 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyskinetic syndrome |
Dyskinetic Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyslipidemias |
Dyslipidemias |
Pubtator |
30241386 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalopathies |
Epileptic encephalopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Essential Hypertension |
Hypertension |
BEFREE |
31277597 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Essential Hypertension |
Hypertension |
Pubtator |
31277597, 32414374, 34336093 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Generalized myoclonic seizures |
Myoclonic Seizures |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma 3 Primary Congenital A |
Glaucoma |
Pubtator |
23401651 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma Open Angle |
Open angle glaucoma |
Pubtator |
30242360 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma, Primary Open Angle |
Glaucoma |
BEFREE |
30242360 |
|
★★★★★★☆☆☆☆ 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 |
| Huntington Disease |
Huntington disease |
Pubtator |
38447791 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertension |
Hypertension |
Pubtator |
19667492, 24252463, 29997041, 31277597 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
BEFREE |
17510502, 19667492, 30241386, 31277597 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
LHGDN |
17510502 |
|
★★★★★★☆☆☆☆ 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 |
| Intervertebral Disc Degeneration |
Intervertebral disc disease |
Pubtator |
35409356 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh Disease |
Leigh syndrome |
Pubtator |
16738010, 24884847 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh Disease |
Leigh Syndrome |
LHGDN |
16996290 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh Disease |
Leigh Syndrome |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY |
Leigh Syndrome |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Leprosy |
Leprosy |
Pubtator |
34090257, 38062538 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| 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 |
| Lupus Erythematosus Systemic |
Systemic lupus erythematosus |
Pubtator |
18708297 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macular Degeneration |
Macular degeneration |
Pubtator |
18461138, 28813576 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macular Degeneration |
Macular degeneration |
Pubtator |
18461138 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
31577800 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
22174369 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Maternally Inherited Leigh Syndrome |
Maternally Inherited Leigh Syndrome |
ORPHANET_DG |
16738010, 16996290 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Memory Disorders |
Memory disorders |
Pubtator |
25511548 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Syndrome |
Metabolic syndrome |
Pubtator |
29997041 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MITOCHONDRIAL COMPLEX I DEFICIENCY |
Mitochondrial Complex Deficiency |
ORPHANET_DG |
12192017, 15781840 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial complex I deficiency |
Mitochondrial complex deficiency |
Pubtator |
16738010, 34935060 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MITOCHONDRIAL COMPLEX I DEFICIENCY |
Mitochondrial Complex Deficiency |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
16738010 |
Inhibit |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
16738010, 24414975 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial Myopathies |
Mitochondrial myopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple sclerosis |
Pubtator |
18708297, 35130313 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Multiple Sclerosis |
Multiple Sclerosis |
BEFREE |
26201854 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Myocardial Infarction |
Myocardial Infarction |
BEFREE |
15262184 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Myocardial Ischemia |
Myocardial Ischemia |
BEFREE |
15680495 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy |
Myopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
Pubtator |
37277661 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Diseases |
Neurodegenerative disorder |
Pubtator |
18461138 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy Hereditary Leber |
Leber hereditary optic neuropathy |
Pubtator |
16738010, 1732158, 20454697, 24884847 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy, Hereditary, Leber |
Hereditary Leber Optic Atrophy |
UNIPROT_DG |
1732158, 1900003 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Optic Atrophy, Hereditary, Leber |
Hereditary Leber Optic Atrophy |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Optic Atrophy, Hereditary, Leber |
Hereditary Leber Optic Atrophy |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Optic Atrophy, Hereditary, Leber |
Hereditary Leber Optic Atrophy |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
22174369 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
22174369 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
LHGDN |
12111463 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Parkinson Disease |
Parkinson disease |
Pubtator |
20035503, 25511548 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Parkinson Disease |
Parkinson disease |
BEFREE |
25511548 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Peripheral demyelinating neuropathy |
Demyelinating neuropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
BEFREE |
17684475 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Neuropathy |
Peripheral Neuropathy |
BEFREE |
17684475 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Ovary Syndrome |
Polycystic ovary syndrome |
Pubtator |
37674615 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polyneuropathy |
Polyneuropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Preexcitation Syndrome |
Wolff-Parkinson-White Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ 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 |
| Retinal telangiectasia |
Retinal telangiectasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ 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 |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
16407369 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
36444610 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tonic - clonic seizures |
Seizure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular preexcitation |
Ventricular preexcitation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| West Syndrome |
West Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |