| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adenocarcinoma |
Adenocarcinoma |
BEFREE |
11423974, 11827167 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenomatous Polyposis Coli |
Multiple polyposis syndrome |
LHGDN |
11972058 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult T-Cell Lymphoma/Leukemia |
T-Cell Lymphoma/Leukemia |
CTD_human_DG |
26437031 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
28558704 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anaplastic Large Cell Lymphoma, ALK-Positive |
Anaplastic Lymphoma |
BEFREE |
23153582 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Aneurysm Abdominal |
Aortic aneurysm |
Pubtator |
29439675 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis Rheumatoid |
Rheumatoid arthritis |
Pubtator |
25880754 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Fibrillation |
Atrial fibrillation |
Pubtator |
35607269 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Neoplasms |
Brain Neoplasms |
BEFREE |
25241897 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
11423974, 23768371, 27306791, 27746184 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
24098452, 26703694, 27746184, 33164285, 37348024 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Burkitt Lymphoma |
Burkitt lymphoma |
Pubtator |
25788269 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
24616922, 27746184, 31406250 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
Pubtator |
25227853 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Ductal Breast |
Ductal carcinoma of breast |
Pubtator |
33164285 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
24616922 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Medullary |
Medullary carcinoma |
Pubtator |
25227853 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of larynx |
Laryngeal carcinoma |
BEFREE |
24831064 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
20625391, 30250529 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Ovarian Epithelial |
Epithelial ovarian carcinoma |
Pubtator |
26637171, 28355289 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Pancreatic Ductal |
Pancreatic ductal carcinoma |
Pubtator |
38290659 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
27906674 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
28975890 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Squamous Cell |
Squamous cell carcinoma |
Pubtator |
40179422 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Ovarian Epithelial |
Ovarian Epithelial carcinoma |
BEFREE |
30883733 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
BEFREE |
26499333 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| cervical cancer |
Cervical Cancer |
BEFREE |
31116803 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly |
Clinodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of fingers |
Clinodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
19855935, 23137536 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
20610541 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
19098285, 19855935, 21359197, 21702981, 32737302, 36333388 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
26876164 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Creutzfeldt-Jakob Disease, Familial |
Creutzfeldt-Jakob disease |
BEFREE |
18404245 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Development Disorder |
BEFREE |
29383814 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
40317201 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
32296102 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Cardiomyopathies |
Diabetic cardiomyopathy |
Pubtator |
34418601 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Nephropathy |
Diabetic Nephropathy |
BEFREE |
29223351 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
17954558, 21761202, 24395637, 27048600, 28135719, 29240241 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
BEFREE |
27048600, 28585349 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eosinophilia |
Eosinophilia |
Pubtator |
33421986 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epithelial ovarian cancer |
Ovarian cancer |
BEFREE |
30883733 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophageal neoplasm |
Pubtator |
22675025 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatal Familial Insomnia |
Fatal Insomnia |
BEFREE |
18404245 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
24036851, 25241897 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
24036851, 25241897 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
30655572 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Head and Neck Carcinoma |
Head And Neck Carcinoma |
BEFREE |
28335614 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematologic Neoplasms |
Hematologic Neoplasms |
BEFREE |
27306791 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Breast and Ovarian Cancer Syndrome |
Hereditary breast and ovarian cancer syndrome |
Pubtator |
24098452, 25541719 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
30655572 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
40317201 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Neoplasms |
Kidney neoplasm |
Pubtator |
37047552 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
BEFREE |
29772186 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
24283803, 33592500 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
24616922 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
22768056, 23651443, 31668570, 36142846 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
25227853 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
33164285 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
BEFREE |
23153582, 29772186 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Head and Neck Neoplasm |
Head and neck cancer |
BEFREE |
28335614 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
11423974, 23768371, 27306791 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
20625391, 30250529 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
20718998 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
11069898, 15634760, 16222144 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of skin |
Skin cancer |
CTD_human_DG |
18572023 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
31819646 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
15634760, 16222144, 16687488, 24831064, 27306791, 28335614, 29772186 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
19855935, 23137536 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
BEFREE |
16357145 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
LHGDN |
17629615 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mandibulofacial Dysostosis |
Mandibulofacial Dysostosis |
BEFREE |
24994558 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Marinesco-Sjogren syndrome |
Marinesco-Sjogren Syndrome |
BEFREE |
29188362 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Medulloblastoma |
Medulloblastoma |
Pubtator |
31406250 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
24825855 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
27226552, 27251789 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesothelioma |
Mesothelioma |
Pubtator |
25422081 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesothelioma Malignant |
Mesothelioma |
Pubtator |
25422081 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
34418601 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Dystrophy Duchenne |
Duchenne muscular dystrophy |
Pubtator |
39915227 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Necrosis |
Necrosis |
Pubtator |
20718998 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
15634760, 16222144, 17847034, 20371694, 23768371, 28335614, 28840260, 29772186 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
Pubtator |
27164076, 27251789 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
BEFREE |
28585349, 30655572, 31779225 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
20671611 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
Pubtator |
35470975 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME |
Neurodevelopmental Disorders |
GENOMICS_ENGLAND_DG |
27048600 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME |
Neurodevelopmental Disorders |
UNIPROT_DG |
27048600 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME |
Neurodevelopmental Disorders |
BEFREE |
29383814, 31729156 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME |
Neurodevelopmental Disorders |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME |
Neurodevelopmental Disorders |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oligospermia |
Oligospermia |
BEFREE |
12778326 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
Pubtator |
30809532 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
Pubtator |
34359939 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
28270146 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
28355289 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
20718998 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
20718998 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Ovary Syndrome |
Polycystic ovary syndrome |
Pubtator |
31115532 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
11069898, 15634760, 16222144 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Hyperplasia |
Prostatic hyperplasia |
Pubtator |
27435858 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
27435858 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal fibrosis |
Renal fibrosis |
BEFREE |
29223351 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
LHGDN |
19165527 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin Neoplasms |
Skin Neoplasms |
CTD_human_DG |
18572023 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Squamous cell carcinoma |
Carcinoma |
CTD_human_DG |
18572023 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
16818647 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of lung |
Lung carcinoma |
BEFREE |
15355908 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of the head and neck |
Carcinoma Of The Head And Neck |
BEFREE |
16222144, 20371694 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
31819646 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Synophrys |
Synophrys |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Teratozoospermia |
Teratozoospermia |
Pubtator |
20562896 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Cancer Papillary |
Papillary thyroid cancer |
Pubtator |
25227853 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Diseases |
Thyroid disease |
Pubtator |
25227853 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasms |
Thyroid cancer |
Pubtator |
25227853 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
40594996 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Xeroderma Pigmentosum |
Xeroderma Pigmentosum |
BEFREE |
1694965 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
Xeroderma Pigmentosum |
BEFREE |
1694965 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |