| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Autistic Disorder |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Cancer, Familial |
Breast Cancer |
ORPHANET_DG |
23450725 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
21177507, 22580995, 23418309, 23446638, 24356815 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
23446638, 36123344 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cafe au lait spots, multiple |
Cafe-au-lait spot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
BEFREE |
23386643, 23418309 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Pancreatic Ductal |
Pancreatic ductal carcinoma |
Pubtator |
38015024 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
21584899 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
34878965 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital chromosomal disease |
Congenital Chromosomal Disease |
BEFREE |
26673699 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus excavatum |
Congenital Pectus Excavatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conjunctival hamartoma |
Conjunctival hamartoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
21584899, 26198328 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Arteriosclerosis |
Coronary Arteriosclerosis |
BEFREE |
31312371 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
BEFREE |
31312371 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary heart disease |
Coronary Heart Disease |
BEFREE |
31312371 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cowden syndrome |
Cowden Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COWDEN SYNDROME 4 |
Cowden Syndrome |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| COWDEN SYNDROME 4 |
Cowden Syndrome |
CTD_human_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Carcinoma |
Endometrial carcinoma |
BEFREE |
25376524 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Carcinoma |
Endometrial carcinoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Neoplasms |
Endometrial neoplasm |
Pubtator |
25376524 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Enlarged polycystic ovaries |
Enlarged polycystic ovaries |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibrous skin tumor of tuberous sclerosis |
Adenoma sebaceum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Follicular thyroid carcinoma |
Follicular Thyroid Carcinoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gynecomastia |
Gynecomastia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hamartoma |
Hamartoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hamartoma Syndrome, Multiple |
Hamartoma |
BEFREE |
21177507, 21584899, 21956414, 23446638, 25376524, 25669429, 28755140 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hamartoma Syndrome, Multiple |
Hamartoma |
ORPHANET_DG |
21177507 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hamartomatous polyposis |
Hamartomatous polyposis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemangioma, Cavernous |
Hemangioma, Cavernous |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary breast cancer |
Hereditary Breast Cancer |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypoxic-Ischemic Encephalopathy |
Hypoxic-Ischemic Encephalopathy |
BEFREE |
31602202 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratoderma, Palmoplantar |
Palmoplantar keratoderma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Neoplasm |
Kidney Neoplasm |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipoma |
Lipoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macroglossia |
Macroglossia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
21177507, 22580995, 23418309, 23446638 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of endometrium |
Endometrial Cancer |
BEFREE |
25376524 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of kidney |
Kidney Cancer |
BEFREE |
21177507 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
23386643 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of thyroid |
Thyroid cancer |
BEFREE |
21956414, 25669429 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
21584899, 23446638, 25669429, 26673699, 28755140 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanocytic nevus |
Melanocytic nevus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Meningioma |
Meningioma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multinodular goiter |
Multinodular goiter |
BEFREE |
28755140 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
21177507, 21584899, 23386643, 23418309, 26673699, 28755140, 30845308, 31382188 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
31382188 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
38015024 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary thyroid carcinoma |
Papillary thyroid carcinoma |
BEFREE |
21956414, 28755140 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papilloma |
Papilloma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polyp of large intestine |
Polyp Of Large Intestine |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
23386643 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
23386643 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psoriasis |
Psoriasis |
BEFREE |
30664260 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal carcinoma |
Renal Carcinoma |
BEFREE |
21177507 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
21584899 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Carcinoma |
Renal Carcinoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
BEFREE |
30845308 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sporadic Breast Carcinoma |
Breast Carcinoma |
BEFREE |
23446638 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid carcinoma |
Thyroid Carcinoma |
BEFREE |
21956414, 25669429 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasm |
Thyroid Neoplasm |
BEFREE |
21956414, 25669429 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasms |
Thyroid cancer |
Pubtator |
21956414, 25669429 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trichilemmoma |
Trichilemmoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
36123344 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |