| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acromesomelic dysplasia Hunter-Thompson type |
Acromesomelic dysplasia |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute leukemia |
Leukemia |
BEFREE |
10095122 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute Promyelocytic Leukemia |
Promyelocytic Leukemia |
BEFREE |
26187004 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma |
Adenocarcinoma |
BEFREE |
12929940 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma |
Adenocarcinoma |
LHGDN |
12929940 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Rickets |
Rickets |
BEFREE |
17033621, 19581284, 26303287, 26721590 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Rickets |
Rickets |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ankylosing spondylitis |
Ankylosing Spondylitis |
BEFREE |
26960368 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis |
Arthritis |
BEFREE |
30779862 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal recessive hypophosphatemic rickets |
Hypophosphatemic Rickets |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal recessive hypophosphatemic vitamin D refractory rickets |
Hypophosphatemic Vitamin D Refractory Rickets, X-Linked |
BEFREE |
17033621, 17033625, 18037646, 19007919, 19796717, 20213538, 20499351, 20499360, 21747952, 23108197, 23403405, 26721590, 28005411, 31843680 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal recessive hypophosphatemic vitamin D refractory rickets |
Hypophosphatemic Vitamin D Refractory Rickets, X-Linked |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal recessive hypophosphatemic vitamin D refractory rickets |
Hypophosphatemic Vitamin D Refractory Rickets, X-Linked |
ORPHANET_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bipolar Disorder |
Bipolar Disorder |
GWASCAT_DG |
20351715 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Bladder Neoplasm |
Bladder Neoplasm |
BEFREE |
25965824 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases |
Bone Disease |
BEFREE |
31107286, 31843680 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases Metabolic |
Bone disease |
Pubtator |
24747200 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases, Developmental |
Bone Disease |
BEFREE |
25180662 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly type C |
Brachydactyly |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| BRACHYDACTYLY, TYPE A1, C |
Brachydactyly |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| BRACHYDACTYLY, TYPE A2 |
Brachydactyly |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
15623631, 21062982, 23938323, 24205004, 25537728 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
23045280, 33120969 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bronchioloalveolar Adenocarcinoma |
Lung adenocarcinoma |
BEFREE |
12929940 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
BEFREE |
17936562, 21062982, 23938323 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of bladder |
Bladder carcinoma |
BEFREE |
25965824 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
12929940, 15623631, 17936562, 18598225 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Squamous Cell |
Squamous cell carcinoma |
Pubtator |
12929940 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Ovarian Epithelial |
Ovarian Epithelial carcinoma |
BEFREE |
15623631 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cartilage Diseases |
Cartilage disease |
Pubtator |
15001995 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chondrodysplasia, Grebe type |
Chondrodysplasia Punctata |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choroidal Neovascularization |
Choroidal neovascularization |
Pubtator |
21190990 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Kidney Diseases |
Kidney Disease |
BEFREE |
29603070, 30830862, 31044094, 31107286 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic Neoplasms |
LHGDN |
16357164 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
30592263 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conductive hearing loss |
Hearing Loss |
BEFREE |
28603080 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis |
Craniosynostosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Degenerative polyarthritis |
Arthritis |
BEFREE |
24987156, 28759313 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dentinogenesis Imperfecta |
Dentinogenesis Imperfecta |
BEFREE |
20499360, 8586437, 9084665, 9177774 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dentinogenesis Imperfecta |
Dentinogenesis imperfecta |
Pubtator |
25578972 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
27981392 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Nephropathy |
Diabetic Nephropathy |
BEFREE |
27876428 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Enthesitis |
Enthesitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial Hypophosphatemic Rickets |
Hypophosphatemic Rickets |
BEFREE |
17635744, 19581284, 20137772, 21050253, 25042154, 26303287, 31107286, 31751752 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial Hypophosphatemic Rickets |
Hypophosphatemic Rickets |
LHGDN |
18037646, 19007919 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial Hypophosphatemic Rickets |
Hypophosphatemic rickets |
Pubtator |
23325605, 28880715, 36315908, 36849506 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibular hypoplasia and complex brachydactyly |
Fibular Hypoplasia And Complex Brachydactyly |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemorrhagic Fever with Renal Syndrome |
Hemorrhagic fever with renal syndrome |
Pubtator |
30735719 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Breast and Ovarian Cancer Syndrome |
Hereditary breast and ovarian cancer syndrome |
Pubtator |
23045280 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperhomocysteinemia |
Hyperhomocysteinemia |
BEFREE |
28507207 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperostosis |
Hyperostosis |
BEFREE |
28607813 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperparathyroidism |
Hyperparathyroidism |
BEFREE |
30916761 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperparathyroidism, Primary |
Hyperparathyroidism |
BEFREE |
30916761 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperthyroidism |
Hyperthyroidism |
BEFREE |
30689850 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypophosphatasia |
Hypophosphatasia |
Pubtator |
22703652 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypophosphatemic Rickets |
Hypophosphatemic Rickets |
BEFREE |
17635744, 19581284, 20137772, 21050253, 25042154, 31751752 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypophosphatemic Rickets |
Hypophosphatemic Rickets |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypophosphatemic Rickets |
Hypophosphatemic Rickets |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypophosphatemic Rickets Autosomal Recessive 1 |
Hypophosphatemic rickets |
Pubtator |
17033625, 19796717, 20499351 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypophosphatemic Rickets Autosomal Recessive 2 |
Hypophosphatemic rickets |
Pubtator |
19007919, 36315908 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
Hypophosphatemic Rickets |
GENOMICS_ENGLAND_DG |
17033621 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
Hypophosphatemic Rickets |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
Hypophosphatemic Rickets |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypophosphatemic Rickets, X-Linked Dominant |
Hypophosphatemic Rickets |
BEFREE |
25894638, 28880715, 31751752 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
BEFREE |
30689850 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoxia |
Hypoxia |
Pubtator |
37929653 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Iron Overload |
Iron overload |
Pubtator |
38040893 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Failure, Acute |
Kidney Failure |
BEFREE |
10898794, 26187004, 30735719 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Left Ventricular Hypertrophy |
Left Ventricular Hypertrophy |
BEFREE |
31044094 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
29556023 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
26187004 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung Neoplasms |
BEFREE |
12929940, 17936562 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
12929940, 33120969 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung Neoplasms |
LHGDN |
17936562 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Major Depressive Disorder |
Mental Depression |
GWASDB_DG |
20351715 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Major Depressive Disorder |
Mental Depression |
GWASCAT_DG |
20351715 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malabsorption Syndrome |
Malabsorption Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
15623631, 21062982, 23938323, 24205004, 25537728 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
12929940, 15623631, 17936562, 18598225 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of ovary |
Ovarian cancer |
BEFREE |
15623631 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of urinary bladder |
Urinary bladder cancer |
BEFREE |
25965824 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
10095122, 12929940, 15623631, 26802432, 30599775 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Peripheral Nerve Sheath Tumor |
Malignant Peripheral Nerve Sheath Tumor |
BEFREE |
15001995 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
LHGDN |
17136477 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Diseases |
Metabolic Diseases |
BEFREE |
31107286 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MULTIPLE SYNOSTOSES SYNDROME 2 |
Multiple Synostoses Syndrome |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
10095122, 10898794, 15001995, 17936562, 19671193, 21062982, 23938323, 25537728, 25965824, 26132471, 26187004, 26802432, 30803311 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
18598225 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
Pubtator |
37800791 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoarthritis of hip |
Osteoarthritis Of Hip |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteochondrodysplasias |
Osteochondrodysplasia |
BEFREE |
20499351 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteochondrodysplasias |
Osteochondrodysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteomalacia |
Osteomalacia |
BEFREE |
17033621, 19581284, 26303287, 26721590 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteopenia |
Osteopenia |
BEFREE |
26503912, 27192486, 28647374, 30266511, 30399207, 31723057 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosclerosis |
Osteosclerosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ovarian neoplasm |
Ovarian neoplasm |
BEFREE |
15623631 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| PACHYONYCHIA CONGENITA 3 |
Pachyonychia Congenita |
BEFREE |
19796718 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Periodontitis |
Periodontitis |
BEFREE |
28068493 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Phosphate Diabetes |
Phosphate Diabetes |
BEFREE |
17033625, 17635744 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Phosphate Diabetes |
Phosphate Diabetes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polyarthritis |
Polyarthritis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
37143720 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal hypophosphatemia |
Renal hypophosphatemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rickets |
Rickets |
BEFREE |
17033621, 21747952, 23325605, 23939820 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rickets |
Rickets |
LHGDN |
18214537 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rickets |
Rickets |
Pubtator |
21050253, 23325605 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rickets |
Rickets |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rickets Hypophosphatemic |
Hypophosphatemic rickets |
Pubtator |
20137772, 20137773, 21050253, 22695891, 36482408 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
GWASCAT_DG |
26198764, 30285260 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skeletal dysplasia |
Skeletal Dysplasia |
BEFREE |
20499351 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skeletal dysplasia |
Skeletal Dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Apnea, Obstructive |
Sleep Apnea |
BEFREE |
24700678 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Soft Tissue Neoplasms |
Soft Tissue Neoplasms |
BEFREE |
15001995 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spondylitis Ankylosing |
Ankylosing spondylitis |
Pubtator |
26960368 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
12929940, 29278708 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
LHGDN |
12929940 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| SYMPHALANGISM, PROXIMAL, 1B |
Symphalangism |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
37800791 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vitamin D Deficiency |
Vitamin D Deficiency |
BEFREE |
23939820 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vitamin D-Resistant Rickets, X-Linked |
Vitamin D-Dependent Rickets |
BEFREE |
19581284, 23108197, 23325605, 25894638, 28880715, 31751752 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |