| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| ACTH-Secreting Pituitary Adenoma |
Pituitary adenoma |
BEFREE |
15372367 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of lung (disorder) |
Lung adenocarcinoma |
BEFREE |
31301086 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenoma |
Adenoma |
BEFREE |
15372367 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Medulloblastoma |
Medulloblastoma |
BEFREE |
10480339, 25915540 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis |
Arthritis |
BEFREE |
17477816 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
23001183, 23216692, 27622335, 29603493, 30177834, 31557600 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
23216692 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
25962054, 33371806, 34477239, 37927213 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cakut |
Congenital anomalies of kidney and urinary tract |
BEFREE |
28334964 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cakut |
Congenital anomalies of kidney and urinary tract |
CLINVAR_DG |
28334964 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cakut |
Congenital anomalies of kidney and urinary tract |
GENOMICS_ENGLAND_DG |
28334964 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
25749520 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
25749520, 34699986 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Pancreatic Ductal |
Pancreatic ductal carcinoma |
Pubtator |
36359879 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebrovascular accident |
Stroke |
BEFREE |
30445025 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Medulloblastoma |
Medulloblastoma |
BEFREE |
10480339, 25915540 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choriocarcinoma |
Choriocarcinoma |
BEFREE |
9125195 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
21617854 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
21239504, 21617854, 29751081 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
21617854 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
23579219, 35974349 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Common Migraine |
Common Migraine |
BEFREE |
31551903 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cone monochromatism |
Cone monochromatism |
BEFREE |
6601089 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of lung |
Pulmonary hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Pain Insensitivity |
Congenital Pain Insensitivity |
BEFREE |
26285796 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
29902078 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Crisponi syndrome |
Crisponi Syndrome |
BEFREE |
17436251 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
BEFREE |
28334964 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deglutition Disorders |
Dysphagia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
BEFREE |
28860016, 30864711 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive Disorder |
Major depressive disorder |
Pubtator |
30864711 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
39926598 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysautonomia |
Dysautonomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Neoplasms |
Endometrial neoplasm |
Pubtator |
38139260 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
29274110 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibrosis, Liver |
Liver Fibrosis |
BEFREE |
30529712 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Flexion contracture - elbow |
Elbow flexion contracture |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gallbladder Carcinoma |
Gallbladder cancer |
BEFREE |
31119098 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
19288188 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
25748242 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
25748242 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemangioma |
Hemangioma |
BEFREE |
30537484 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 |
Hemophagocytic Lymphohistiocytosis |
CLINVAR_DG |
14740318 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Sensory and Autonomic Neuropathies |
Hereditary sensory and autonomic neuropathy |
BEFREE |
26285796 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypersomnia |
Hypersomnia |
BEFREE |
28860016, 30778326 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypohidrosis |
Hypohidrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic pulmonary arterial hypertension |
Pulmonary arterial hypertension |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infertility |
Infertility |
Pubtator |
18684446 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intracranial Aneurysm |
Intracranial Aneurysm |
BEFREE |
28433851 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Neoplasms |
Kidney neoplasm |
Pubtator |
30444862 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
BEFREE |
20447141, 25092123 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
26060100 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
19733004, 26249360 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
CTD_human_DG |
28284560 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic Metastasis |
BEFREE |
29751081 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
34658294 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
22535017, 23001183, 23216692, 27622335, 29603493, 30177834, 31557600 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of gallbladder |
Gallbladder cancer |
BEFREE |
31119098 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
27375070 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
CTD_human_DG |
19208208 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
28533357, 29269867, 30851421 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of skin |
Skin cancer |
BEFREE |
26329521 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
26537802 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
21617854, 28798325, 29751081, 29902078, 30851421 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
21617854 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
BEFREE |
22535017, 23216692 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Medulloblastoma |
Medulloblastoma |
BEFREE |
10480339, 25915540 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Medulloblastoma |
Medulloblastoma |
Pubtator |
25915540 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
26329521 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Melanoma |
Melanoma |
Pubtator |
26329521 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mental Depression |
Mental Depression |
BEFREE |
28860016, 30864711 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micromelia |
Micromelia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Infarction |
Myocardial Infarction |
BEFREE |
15550692, 29223542 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal carcinoma |
Nasopharyngeal Carcinoma |
BEFREE |
30245131 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
10480339, 19733004, 22535017, 23630011, 24073846, 29603493, 29751081, 30692635, 31301086, 31557600 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neural Tube Defects |
Neural Tube Defect |
BEFREE |
31638095 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
18624908 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
Pubtator |
40108662 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
28827150 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteochondrodysplasias |
Osteochondrodysplasia |
BEFREE |
26285796 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteochondrodysplasias |
Osteochondrodysplasia |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteopenia |
Osteopenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Painful Bladder Syndrome |
Interstitial cystitis |
BEFREE |
30322390 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
27375070 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
34658294, 36359879 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paranoid delusion |
Paranoid Delusion |
BEFREE |
21971603 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Paranoid delusion |
Paranoid Delusion |
PSYGENET_DG |
21971603 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Parkinson Disease |
Parkinson disease |
BEFREE |
20074285, 28857268 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Ovary Syndrome |
Polycystic Ovary Syndrome |
CTD_human_DG |
21411543 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Polycystic Ovary Syndrome |
Polycystic ovary syndrome |
Pubtator |
35551681 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Prolactinoma |
Prolactinoma |
BEFREE |
12574225 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
28533357, 29269867, 30851421 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Hyperplasia |
Prostatic hyperplasia |
Pubtator |
39390078 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic Neoplasms |
CTD_human_DG |
19208208 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
32592689 |
Stimulate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
35821621 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Prune Belly Syndrome |
Prune belly syndrome |
BEFREE |
30322390 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary arterial hypertension |
Pulmonary arterial hypertension |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary arterial medial hypertrophy |
Pulmonary arterial medial hypertrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Disease Chronic Obstructive |
Chronic obstructive pulmonary disease |
Pubtator |
33260035 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal carcinoma |
Renal Carcinoma |
BEFREE |
29956728 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
29956728 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
BEFREE |
29551890 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
BEFREE |
21971603 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia |
Schizophrenia |
PSYGENET_DG |
21971603 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sclerocystic Ovaries |
Sclerocystic Ovaries |
CTD_human_DG |
21411543 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skeletal dysplasia |
Skeletal Dysplasia |
BEFREE |
26285796 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skeletal dysplasia |
Skeletal Dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin Diseases |
Skin disease |
Pubtator |
23579219 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin Neoplasms |
Skin neoplasm |
Pubtator |
26329521 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spina Bifida Cystica |
Spina Bifida Cystica |
BEFREE |
31638095 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
21394648 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
26537802 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
37752199, 37945798 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sturge-Weber Syndrome |
Sturge-Weber Syndrome |
BEFREE |
30537484, 30599880 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stuve-Wiedemann dysplasia |
Stuve-Wiedemann syndrome |
ORPHANET_DG |
24618404 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| STUVE-WIEDEMANN SYNDROME |
Stuve-Wiedemann syndrome |
BEFREE |
14740318, 15324311, 19603067, 20447141, 24618404, 25145448, 26285796, 30599880 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| STUVE-WIEDEMANN SYNDROME |
Stuve-Wiedemann syndrome |
UNIPROT_DG |
14740318 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| STUVE-WIEDEMANN SYNDROME |
Stuve-Wiedemann syndrome |
CTD_human_DG |
19603067 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| STUVE-WIEDEMANN SYNDROME |
Stuve-Wiedemann syndrome |
ORPHANET_DG |
24618404 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| STUVE-WIEDEMANN SYNDROME |
Stuve-Wiedemann syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| STUVE-WIEDEMANN SYNDROME |
Stuve-Wiedemann syndrome |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
|
|
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Systemic Scleroderma |
Scleroderma |
BEFREE |
29038846 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Talipes |
Talipes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple Negative Breast Neoplasms |
BEFREE |
31142661 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
31142661 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trismus |
Trismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vascular Diseases |
Vascular Diseases |
BEFREE |
29038846 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |