| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adenocarcinoma of colon |
Adenocarcinoma Of Colon |
BEFREE |
12771218 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of lung (disorder) |
Lung adenocarcinoma |
BEFREE |
31323040 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Azoospermia |
Azoospermia |
Pubtator |
35172124 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Azoospermia |
Azoospermia |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| B-Cell Lymphomas |
B-Cell Lymphoma |
BEFREE |
26823731 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
GWASCAT_DG |
29059683 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
30194396 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
19448619 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
36575045 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Squamous Cell |
Squamous cell carcinoma |
Pubtator |
36445337 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular disease |
Pubtator |
19448619 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choriocarcinoma |
Choriocarcinoma |
BEFREE |
12771218 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chromosomal Instability |
Chromosomal instability |
Pubtator |
28863940 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic neoplasm |
Pubtator |
12771218 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
32841224 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms Hereditary Nonpolyposis |
Lynch syndrome |
Pubtator |
32841224 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of ovary |
Hypoplasia of the ovary |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endocrine System Diseases |
Endocrine system disease |
Pubtator |
25437880 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
37349788 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
32652893 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematopoietic Neoplasms |
Hematopoietic Neoplasms |
BEFREE |
31509747 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hepatoblastoma |
Hepatoblastoma |
Pubtator |
37850543 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infertility |
Infertility |
Pubtator |
32841224 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
30480765 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
29463213, 30546424 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
35360518 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
27695057 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Childhood Neoplasm |
Malignant Neoplasm |
BEFREE |
23360674 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
30194396 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
27695057 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
28481876 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
26823731, 28481876, 30648820 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myeloid Leukemia, Chronic |
Myeloid Leukemia |
BEFREE |
26823731 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
12771218 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NON RARE IN EUROPE: Primary ovarian failure |
Ovarian Failure |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
Pubtator |
19448619 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Dysgenesis 2 |
Ovarian dysgenesis |
Pubtator |
25437880 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Failure, Premature |
Ovarian Failure |
GENOMICS_ENGLAND_DG |
22771120 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Failure, Premature |
Ovarian Failure |
BEFREE |
27573988, 27802094, 30276597, 30743181 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
28863940 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
27695057 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
27695057 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Plexiform leiomyoma |
Plexiform leiomyoma |
GWASCAT_DG |
30194396, 31649266 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Premature Menopause |
Premature Menopause |
BEFREE |
27573988, 28863940, 30276597 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Premature Menopause |
Premature Menopause |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| PREMATURE OVARIAN FAILURE 10 |
Premature Ovarian Failure |
UNIPROT_DG |
25437880 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| PREMATURE OVARIAN FAILURE 10 |
Premature Ovarian Failure |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| PREMATURE OVARIAN FAILURE 10 |
Premature Ovarian Failure |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Primary hypogonadism |
Hypogonadism |
BEFREE |
25873734 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary physiologic amenorrhea |
Physiologic Amenorrhea |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
28481876 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
34404366 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Fibroids |
Uterine Fibroids |
GWASCAT_DG |
30194396, 31649266 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |