| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Agenesis of corpus callosum |
Agenesis Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alobar Holoprosencephaly |
Alobar Holoprosencephaly |
CTD_human_DG |
17525797 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alobar Holoprosencephaly |
Alobar Holoprosencephaly |
ORPHANET_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alobar holoprosencephaly |
Alobar Holoprosencephaly |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ambiguous Genitalia |
Ambiguous Genitalia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arhinencephaly |
Arrhinencephaly |
CTD_human_DG |
17525797 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Basal Cell Nevus Syndrome |
Basal Cell Neoplasm |
BEFREE |
7956349 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bladder Neoplasm |
Bladder Neoplasm |
BEFREE |
8895761 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
16155412 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cap Myopathy |
Cap myopathy |
Pubtator |
18974881 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Basal Cell |
Basal cell carcinoma |
Pubtator |
31988301 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
39174588 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Intraductal Noninfiltrating |
Intraductal noninfiltrating carcinoma |
Pubtator |
32050925 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of bladder |
Bladder carcinoma |
BEFREE |
8895761 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choanal Atresia |
Choanal Atresia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
21111449, 27401611 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
33397428 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital absence of kidneys syndrome |
Renal agenesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital coloboma of iris |
Congenital Coloboma Of Iris |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of penis |
Congenital Hypoplasia Of Penis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
28184927 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cyclocephaly |
Cyclocephaly |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Diabetes |
Diabetes |
BEFREE |
28315934 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
28315934 |
|
★★★★★★☆☆☆☆ 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 |
| Esophageal Neoplasms |
Esophageal neoplasm |
Pubtator |
34716287 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma, Primary Open Angle |
Glaucoma |
BEFREE |
18436822 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
29941984, 30327548 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
37609818 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
24529556, 29941984, 30327548 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
15056455, 17599090, 19460624, 20885451, 24529556 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
37609818 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
24699858 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemangioma |
Hemangioma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Sensory Autonomic Neuropathy, Type 1 |
Hereditary sensory and autonomic neuropathy |
BEFREE |
9371409 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Holoprosencephaly |
Holoprosencephaly |
BEFREE |
17525797, 20583177, 21842183 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Holoprosencephaly |
Holoprosencephaly |
CTD_human_DG |
17525797 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Holoprosencephaly |
Holoprosencephaly |
Pubtator |
21842183 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Holoprosencephaly |
Holoprosencephaly |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypopituitarism |
Hypopituitarism |
BEFREE |
25327282 |
|
★★★★★★☆☆☆☆ 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 |
| Intervertebral Disc Degeneration |
Intervertebral Disc Degeneration |
BEFREE |
26805687 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Diseases |
Kidney Disease |
BEFREE |
26041819 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leiomyoma |
Leiomyoma |
Pubtator |
17716379 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lobar Holoprosencephaly |
Lobar Holoprosencephaly |
CTD_human_DG |
17525797 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lobar Holoprosencephaly |
Lobar Holoprosencephaly |
ORPHANET_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lobar holoprosencephaly |
Lobar Holoprosencephaly |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
16155412 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
19638344, 22846196 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of urinary bladder |
Urinary bladder cancer |
BEFREE |
8895761 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
19460624, 24220341, 25429664, 28184927 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
18981472 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
LHGDN |
18981472 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microform holoprosencephaly |
Microform Holoprosencephaly |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Midline interhemispheric variant of holoprosencephaly |
Midline Interhemispheric Variant Of Holoprosencephaly |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neoplasms |
Neoplasms |
BEFREE |
15056455, 15358631, 17599090, 18974881, 18981472, 19121317, 19460624, 22846196, 24220341, 24992044, 25429664, 29941984, 7956349, 8895761 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
11906213 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
BEFREE |
27453337 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Diseases |
Ovarian diseases |
Pubtator |
22246450 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
32186777, 35741755, 37404304, 39961214 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Panhypopituitarism |
Panhypopituitarism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary thyroid carcinoma |
Papillary thyroid carcinoma |
BEFREE |
15619007, 24220341 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
BEFREE |
9371409 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Semilobar Holoprosencephaly |
Semilobar Holoprosencephaly |
CTD_human_DG |
17525797 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Semilobar Holoprosencephaly |
Semilobar Holoprosencephaly |
ORPHANET_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Semilobar holoprosencephaly |
Semilobar Holoprosencephaly |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Septopreoptic holoprosencephaly |
Septopreoptic Holoprosencephaly |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR |
Fused incisors |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
36378845 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
22846196 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
19638344 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tetralogy of Fallot |
Tetralogy of Fallot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Cancer Papillary |
Papillary thyroid cancer |
Pubtator |
15619007 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasms |
Thyroid cancer |
Pubtator |
15619007 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple Negative Breast Neoplasms |
BEFREE |
24992044 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
40133516 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uranostaphyloschisis |
Uranostaphyloschisis |
BEFREE |
17525797 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |