| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Absence of septum pellucidum |
Absence Of Septum Pellucidum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bladder Neoplasm |
Bladder Neoplasm |
BEFREE |
23775577, 28861329 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
31396565 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
24548884 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of bladder |
Bladder carcinoma |
BEFREE |
23775577, 28861329 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Pancreatic Ductal |
Pancreatic ductal carcinoma |
Pubtator |
34061869 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Ovarian Epithelial |
Ovarian Epithelial carcinoma |
BEFREE |
29675438 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cleft Lip |
Cleft lip |
Pubtator |
29241927 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cleft palate and bilateral cleft lip |
Cleft Palate And Bilateral Cleft Lip |
BEFREE |
29241927 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
25193853 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital diaphragmatic hernia |
Congenital diaphragmatic hernia |
BEFREE |
20024584 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Congenital diaphragmatic hernia |
Congenital diaphragmatic hernia |
CTD_human_DG |
20938900 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Congenital ectopic pupil |
Congenital anomaly of eye |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital fusion of ribs |
Rib fusion |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hernia of foramen of Bochdalek |
Posterolateral diaphragmatic hernia |
CTD_human_DG |
20938900 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hernia of foramen of Morgagni |
Morgagni diaphragmatic hernia |
CTD_human_DG |
20938900 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis |
Craniosynostosis |
BEFREE |
19056490 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophageal neoplasm |
Pubtator |
37116156 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Squamous Cell Carcinoma |
Esophageal squamous cell carcinoma |
Pubtator |
21044961 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exophthalmos |
Proptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Facial Dysmorphism with Multiple Malformations |
Facial dysmorphism syndrome |
Pubtator |
29241927 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroesophageal reflux disease |
Gastroesophageal Reflux Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroschisis |
Gastroschisis |
Pubtator |
32163230 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemangioma |
Hemangioma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary hemochromatosis |
Hereditary Hemochromatosis |
BEFREE |
29675438 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertension |
Hypertension |
Pubtator |
35980984 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypodontia |
Hypodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypospadias |
Hypospadias |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immunologic Deficiency Syndromes |
Immunologic Deficiency Syndromes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
27666683 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Diseases |
Lung disease |
Pubtator |
32396269 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
29371906, 32396269 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
24548884 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of ovary |
Ovarian cancer |
BEFREE |
29675438 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of urinary bladder |
Urinary bladder cancer |
BEFREE |
23775577, 28861329 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
16273302, 21044961 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
16273302, 23775577, 29675438, 29963148 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
Pubtator |
28211912 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteoporosis |
Osteoporosis |
Pubtator |
35980984 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
BEFREE |
30008923 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Carcinoma |
Ovarian Carcinoma |
BEFREE |
29675438 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ovarian neoplasm |
Ovarian neoplasm |
BEFREE |
16273302 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
23571109, 26015570 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
37130628 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pitt-Rogers-Danks Syndrome |
Pitt-Rogers-Danks Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precocious Puberty |
Precocious puberty |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
37929340 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Radioulnar Synostosis |
Radioulnar Synostosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rieger eye malformation sequence |
Axenfeld anomaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rieger syndrome |
Rieger syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
BEFREE |
24719266 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
29963148 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
21044961, 29963148 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stenosis of external auditory canal |
Stenosis Of External Auditory Canal |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stereotyped Behavior |
Stereotyped Behavior |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
23775577 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Septal Defects |
Ventricular septal defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Wolf-Hirschhorn Syndrome |
Wolf-Hirschhorn Syndrome |
BEFREE |
29241927 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Wolf-Hirschhorn Syndrome |
Wolf-Hirschhorn Syndrome |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |