| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute leukemia |
Leukemia |
BEFREE |
3474482 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute lymphocytic leukemia |
Lymphocytic Leukemia |
BEFREE |
3474482 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Acute Lymphocytic Leukemia |
Lymphocytic Leukemia |
BEFREE |
3474482 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agammaglobulinemia |
Agammaglobulinemia |
Pubtator |
19903677 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Age related macular degeneration |
Age-related macular degeneration |
BEFREE |
23202958, 23714858 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
31415677 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blast Phase |
Blast phase chronic myelogenous leukemia |
BEFREE |
3474482 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bloom Syndrome |
Bloom Syndrome |
BEFREE |
1742335, 2106500, 2155388, 3353381, 3948317 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Bloom Syndrome |
Bloom syndrome |
Pubtator |
1924305, 3353381 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Bloom Syndrome |
Bloom Syndrome |
CTD_human_DG |
2106500 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
33675849 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
23873851 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebrovascular accident |
Stroke |
BEFREE |
17207936 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Acute Lymphoblastic Leukemia |
Lymphoblastic Leukemia |
BEFREE |
3474482 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
21317926, 8625314 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
CTD_human_DG |
15814641 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
17029639 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal Neoplasms |
CTD_human_DG |
15814641 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colorectal Neoplasms |
Colorectal Neoplasms |
LHGDN |
17029639 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
17029639, 23873851, 33675849, 33795350 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital contractural arachnodactyly |
Congenital Contractural Arachnodactyly |
BEFREE |
18714155 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
Pubtator |
28120895 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cystic Fibrosis |
Cystic fibrosis |
Pubtator |
7683477 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysgammaglobulinemia |
Dysfibrinogenemia |
Pubtator |
19903677 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epididymitis |
Epididymitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal carcinoma |
Esophageal Carcinoma |
BEFREE |
25301111, 26194062 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophagus Neoplasm |
BEFREE |
25301111, 26194062 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophageal neoplasm |
Pubtator |
26194062 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
9852992 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
9852992 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
15681472 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyper-IgM Immunodeficiency Syndrome, Type 1 |
Hyper-IgM Immunodeficiency Syndrome |
BEFREE |
12840068, 15358621, 16860315, 20805886 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyper-IgM Immunodeficiency Syndrome, Type 2 |
Hyper-IgM Immunodeficiency Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyper-IgM Immunodeficiency Syndrome, Type 3 |
Hyper-IgM Immunodeficiency Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyper-IgM Immunodeficiency Syndrome, Type 5 |
Hyper-IgM Immunodeficiency Syndrome |
ORPHANET_DG |
12958596, 15967827 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hyper-IgM Immunodeficiency Syndrome, Type 5 |
Hyper-IgM Immunodeficiency Syndrome |
GENOMICS_ENGLAND_DG |
12958596 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hyper-IgM Immunodeficiency Syndrome, Type 5 |
Hyper-IgM Immunodeficiency Syndrome |
UNIPROT_DG |
12958596, 15967827 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hyper-IgM Immunodeficiency Syndrome, Type 5 |
Hyper-IgM Immunodeficiency Syndrome |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hyper-IgM Immunodeficiency Syndrome, Type 5 |
Hyper-IgM Immunodeficiency Syndrome |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hyper-IgM syndrome type 5 |
Hyper-IgM Syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Hyperimmunoglobulin M syndrome |
Hyperimmunoglobulin M Syndrome |
BEFREE |
16860315, 20805886 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Hyperimmunoglobulin M syndrome |
Hyperimmunoglobulin M Syndrome |
CTD_human_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Immune System Diseases |
Immune system disease |
Pubtator |
3353381 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immunologic Deficiency Syndromes |
Immunologic Deficiency Syndromes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
BEFREE |
3474482 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
3474482 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
31152021 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
23873851 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
BEFREE |
16860315 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of esophagus |
Esophagus Neoplasm |
BEFREE |
25301111, 26194062 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
23873851 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
19671688 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
1742335, 18676834, 19671688, 22138674, 22643842, 27517750, 27875297, 29642934 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
21317926, 8625314 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myeloid Leukemia, Chronic |
Myeloid Leukemia |
BEFREE |
23047475, 3474482 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myotonic Dystrophy |
Myotonic dystrophy |
Pubtator |
29269788 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal Carcinoma |
Nasopharyngeal carcinoma |
Pubtator |
33102573 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
1688517, 25154417, 27840062, 27875297 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
17207936 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
30527192 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
Pubtator |
7534293 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
27875297, 30747491 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
19671688 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
19671688 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
BEFREE |
22138674 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
23873851 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
25301111 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Dysplasia |
Uterine disease |
Pubtator |
30572497 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
30572497 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vesicular Stomatitis |
Vesicular Stomatitis |
BEFREE |
20371602 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Waldenstrom Macroglobulinemia |
Waldenstrom macroglobulinemia |
Pubtator |
19903677 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Xeroderma Pigmentosum |
Xeroderma pigmentosum |
Pubtator |
8207043 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |