| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acne |
Acne |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia, Hemolytic |
Anemia |
LHGDN |
16079115 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia, Hemolytic |
Anemia |
BEFREE |
28556555 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arteriosclerosis |
Arteriosclerosis |
BEFREE |
21858044 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
BEFREE |
21858044 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
Pubtator |
21858044 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| B-Cell Lymphomas |
B-Cell Lymphoma |
BEFREE |
11485900 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| beta Thalassemia |
beta Thalassemia |
BEFREE |
6766754 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| beta Thalassemia |
Beta thalassemia |
Pubtator |
6766754 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
18204793, 29295867, 29682102, 29770168 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
CTD_human_DG |
29295867 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
29295867, 29682102 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cardiovascular Diseases |
Cardiovascular Diseases |
BEFREE |
21858044 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Central Diabetes Insipidus |
Diabetes Insipidus |
BEFREE |
22576711, 28970055 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal Neoplasms |
BEFREE |
16207129 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cone-Rod Dystrophy 2 |
Cone-rod dystrophy |
BEFREE |
12858176, 15827106, 16817821, 17062770, 18628520, 21325058, 23132696 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Corneal Dystrophy Crystalline of Schnyder |
Corneal dystrophy |
Pubtator |
16163269 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cortisone reductase deficiency |
Cortisone Reductase Deficiency |
BEFREE |
15827106, 16091483, 17062770, 19935835, 21050867 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cortisone reductase deficiency |
Cortisone Reductase Deficiency |
ORPHANET_DG |
18628520 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cortisone reductase deficiency |
Cortisone reductase deficiency |
Pubtator |
18628520, 19935835, 23132696 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cortisone reductase deficiency |
Cortisone Reductase Deficiency |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CORTISONE REDUCTASE DEFICIENCY 1 |
Cortisone Reductase Deficiency |
UNIPROT_DG |
12858176, 17974005, 18628520, 23132696 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| CORTISONE REDUCTASE DEFICIENCY 1 |
Cortisone Reductase Deficiency |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Cyst |
Cyst |
BEFREE |
16333079, 20214085 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dementia |
Dementia |
BEFREE |
17062770 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes |
Diabetes |
BEFREE |
31696216 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
31696216 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
18963204, 21869537, 28751144 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
BEFREE |
28516749 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Extrahepatic Cholangiocarcinoma |
Cholangiocarcinoma |
BEFREE |
28559964 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver |
Fatty Liver |
BEFREE |
18665910 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver Disease |
Fatty Liver |
BEFREE |
18665910 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
35441887 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperandrogenism |
Hyperandrogenism |
BEFREE |
21050867, 22306327 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperandrogenism |
Hyperandrogenism |
Pubtator |
26452272 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperandrogenism due to cortisone reductase deficiency |
Hyperandrogenism |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hyperbilirubinemia Neonatal |
Hyperbilirubinemia |
Pubtator |
22906047 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperinsulinemic hypoglycemia |
Hyperinsulinemic hypoglycemia |
BEFREE |
22583614 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperinsulinism |
Hyperinsulinism |
BEFREE |
19690084, 25024374, 31696216 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoglycemia |
Hypoglycemia |
BEFREE |
25024374 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intrahepatic Cholangiocarcinoma |
Intrahepatic Cholangiocarcinoma |
BEFREE |
29371936 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid |
Myeloid leukemia |
Pubtator |
11485900 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
18204793, 29295867, 29682102, 29770168 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
CTD_human_DG |
29295867 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
29295867 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Carcinoma, Human |
Marfan Syndrome |
CTD_human_DG |
29295867 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
CTD_human_DG |
29295867 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms, Human |
Mammary Neoplasms |
CTD_human_DG |
29295867 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Syndrome |
Metabolic syndrome |
Pubtator |
21869537 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Syndrome X |
Metabolic Syndrome |
BEFREE |
21869537, 21964795, 25389364, 28751144 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple Sclerosis |
BEFREE |
19935835 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Multiple Sclerosis |
Multiple sclerosis |
Pubtator |
19935835 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nasopharyngeal Carcinoma |
Nasopharyngeal carcinoma |
Pubtator |
21052085 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
16207129, 29682102 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
BEFREE |
21964795, 22306327, 23563607, 31696216 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Ovary Syndrome |
Polycystic Ovary Syndrome |
BEFREE |
12858176, 15827106, 16817821, 21050867, 22306327, 23979790, 26452272 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Ovary Syndrome |
Polycystic ovary syndrome |
Pubtator |
26452272 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precocious Puberty |
Precocious puberty |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Premature adrenarche |
Premature adrenarche |
BEFREE |
23132696 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Presenile dementia |
Senile Dementia |
BEFREE |
17062770 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary Hyperoxaluria |
Hyperoxaluria |
BEFREE |
9604806 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Steatohepatitis |
Fatty Liver |
BEFREE |
18665910 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |