| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adrenocortical Carcinoma |
Adrenocortical carcinoma |
Pubtator |
30413320 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ambiguous Genitalia |
Ambiguous Genitalia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aneuploidy |
Aneuploidy |
Pubtator |
29448935, 33564066 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic coarctation |
Aortic Coarctation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Valve Insufficiency |
Aortic Valve Insufficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Septal Defects |
Atrial Septal Defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bladder Neoplasm |
Bladder Neoplasm |
BEFREE |
11400114 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
24711138 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
35186236, 35493295 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cafe au lait spots, multiple |
Cafe-au-lait spot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
BEFREE |
12692836 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
32596342, 35493295, 37301543 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma in Situ |
Carcinoma in situ |
Pubtator |
26398519 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of the 5th finger |
Camptodactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
23747338, 27713038, 29448935 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
29448935, 35156516 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dandy-Walker Syndrome |
Dandy-Walker Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Duodenal atresia |
Duodenal Atresia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Elliptocytosis 1 |
Hereditary elliptocytosis |
Pubtator |
29448935 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Follicular thyroid carcinoma |
Follicular Thyroid Carcinoma |
BEFREE |
18383837 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
11355300, 23728478, 24316223 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
18694480 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
23728478, 24316223 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
22022424 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Holoprosencephaly |
Holoprosencephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intestinal Polyposis |
Intestinal Polyposis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia |
Leukemia |
Pubtator |
37535603 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lip and Oral Cavity Carcinoma |
Lip and Oral Cavity Carcinoma |
BEFREE |
30866167 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
11400114 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
24711138 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
11146226 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of mouth |
Malignant neoplasm of mouth |
BEFREE |
30866167 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
30553276, 31783872 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
31801961 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
12692836, 28843004 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
11400114, 15796961, 16760651, 30413320 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
24743044 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microphthalmos |
Microphthalmos |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| mosaic variegated aneuploidy |
Mosaic Variegated Aneuploidy |
BEFREE |
23747338 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mosaic variegated aneuploidy syndrome |
Mosaic Variegated Aneuploidy |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mosaic variegated aneuploidy syndrome |
Mosaic Variegated Aneuploidy |
BEFREE |
29448935 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mosaic variegated aneuploidy syndrome |
Mosaic variegated aneuploidy |
Pubtator |
29448935 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mosaic variegated aneuploidy syndrome 1 |
Mosaic Variegated Aneuploidy |
ORPHANET_DG |
23747338 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mosaic variegated aneuploidy syndrome 1 |
Mosaic Variegated Aneuploidy |
BEFREE |
29448935 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multicystic Dysplastic Kidney |
Multicystic renal dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Dystrophy |
Muscular dystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myelodysplasia |
Myelodysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYELODYSPLASTIC SYNDROME |
Myelodysplastic Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
31801961 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephroblastoma |
Nephroblastoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
BEFREE |
15796961 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
LHGDN |
15796961 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
30553276, 31783872 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
28767289 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary thyroid carcinoma |
Papillary thyroid carcinoma |
BEFREE |
18383837 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Lymphoblastic Leukemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
31801961 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
31801961 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhabdomyosarcoma |
Rhabdomyosarcoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
Pubtator |
33872216, 35493295 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
30866167 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
12692836, 28843004 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Subaortic stenosis |
Subaortic Stenosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid carcinoma |
Thyroid Carcinoma |
BEFREE |
18383837 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
35056723 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vaginal Neoplasms |
Vaginal Neoplasms |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |