| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acrania |
Acrania |
CTD_human_DG |
17409324, 19319979 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma |
Adenocarcinoma |
BEFREE |
26527747 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenomatous Polyposis Coli |
Multiple polyposis syndrome |
BEFREE |
26527747 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ambiguous Genitalia |
Ambiguous Genitalia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Androgen-Insensitivity Syndrome |
Androgen-Insensitivity Syndrome |
BEFREE |
27755493 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anencephaly |
Anencephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anus, Imperforate |
Imperforate anus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arhinencephaly |
Arrhinencephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arnold Chiari Malformation |
Arnold-Chiari malformation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bladder Neoplasm |
Bladder Neoplasm |
BEFREE |
30146736, 31758655 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
22179838 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
31755218 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
25874746 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of bladder |
Bladder carcinoma |
BEFREE |
30146736, 31758655 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Squamous Cell |
Squamous cell carcinoma |
Pubtator |
21488189 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Caudal dysplasia syndrome |
Caudal regression sequence |
ORPHANET_DG |
17409324 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Caudal regression sequence |
Caudal regression sequence |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Caudal Regression Syndrome |
Caudal regression sequence |
ORPHANET_DG |
17409324 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Caudal Regression Syndrome |
Caudal regression sequence |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Caudal Regression Syndrome |
Caudal regression sequence |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cervical spina bifida aperta |
Cervical spina bifida aperta |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cervical spina bifida cystica |
Cervical spina bifida cystica |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cervicothoracic spina bifida aperta |
Cervicothoracic Spina Bifida |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cervicothoracic spina bifida cystica |
Cervicothoracic Spina Bifida |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
16204073, 19166844 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic Neoplasms |
BEFREE |
16204073 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic neoplasm |
Pubtator |
27245242 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
18653728, 24893630, 24909917, 26527747, 27648936, 30360226 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
21488189 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital absence of kidneys syndrome |
Renal agenesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of lung |
Pulmonary hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital meningocele |
Congenital Meningocele |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniorachischisis |
Craniorachischisis |
CTD_human_DG |
17409324, 19319979 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniorachischisis |
Craniorachischisis |
BEFREE |
25068569 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermoid Cyst |
Dermoid Cyst |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diastematomyelia |
Diastematomyelia |
CTD_human_DG |
17409324, 19319979 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Double ureter |
Double Ureter |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ectopic kidney |
Ectopic kidney |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exencephaly |
Anencephaly |
CTD_human_DG |
17409324, 19319979 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fecal Incontinence |
Bowel incontinence |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
28481871 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
28481871 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
28481871 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
28481871 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Iniencephaly |
Anencephaly |
CTD_human_DG |
17409324, 19319979 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipoma |
Lipoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
12011995, 21473287, 25874746 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lumbosacral agenesis |
Lumbosacral Agenesis |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lumbosacral spina bifida aperta |
Lumbosacral Spina Bifida Aperta |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lumbosacral spina bifida cystica |
Lumbosacral Spina Bifida Cystica |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Nephritis |
Lupus nephritis |
Pubtator |
35028618 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
22179838 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
12060845 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
12060845 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of urinary bladder |
Urinary bladder cancer |
BEFREE |
30146736, 31758655 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
12060845, 19166844, 21473287, 28481871, 29107170 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
16204073, 19166844 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
34750955 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Meningomyelocele |
Meningomyelocele |
BEFREE |
23024041 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Meningomyelocele |
Meningomyelocele |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple lipomata |
Multiple Lipomata |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
12060845, 16204073, 18653728, 19166844, 21473287, 24893630, 31758655 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neural Tube Defects |
Neural Tube Defect |
BEFREE |
17409324, 19319979, 20043994, 21840926, 24223810, 24407469, 25068569, 25208524, 26914375, 28369449 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neural Tube Defects |
Neural Tube Defect |
CTD_human_DG |
17409324, 19319979 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neural Tube Defects |
Neural tube defect |
Pubtator |
17409324, 19319979, 24223810, 34014041 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neural Tube Defects |
Neural Tube Defect |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neurenteric Cyst |
Neurenteric Cyst |
CTD_human_DG |
17409324, 19319979 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurogenic Urinary Bladder |
Neurogenic Urinary Bladder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oral cleft |
Oral cleft |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
BEFREE |
30779060 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
Pubtator |
30779060 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
12060845 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Insufficiency |
Renal Insufficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sacral agenesis |
Sacral Agenesis |
ORPHANET_DG |
17409324 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sacral agenesis |
Sacral Agenesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sacral agenesis |
Sacral Agenesis |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sacral agenesis |
Sacral Agenesis |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sacral defect and anterior sacral meningocele |
Sacral defect with anterior meningocele |
UNIPROT_DG |
17409324 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sacral defect and anterior sacral meningocele |
Sacral defect |
Pubtator |
28007035, 34014041 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sacral defect and anterior sacral meningocele |
Sacral defect with anterior meningocele |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sacral defect and anterior sacral meningocele |
Sacral defect with anterior meningocele |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sacral lipoma |
Sacral lipoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spina Bifida |
Spina Bifida |
BEFREE |
19319979 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spina bifida aperta of cervical spine |
Spina Bifida |
ORPHANET_DG |
17409324, 19319979 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spina Bifida Occulta |
Spina bifida occulta |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spinal Cord Myelodysplasia |
Spinal Cord Myelodysplasia |
CTD_human_DG |
17409324, 19319979 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
19166844 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
21488189 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
12060845 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
LHGDN |
11956595 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
BEFREE |
12011973, 12011999, 12060845 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tethered Cord Syndrome |
Primary Tethered cord syndrome |
CTD_human_DG |
17409324, 19319979 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thoracolumbosacral spina bifida aperta |
Thoracolumbosacral spina bifida aperta |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thoracolumbosacral spina bifida cystica |
Thoracolumbosacral spina bifida cystica |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Total spina bifida aperta |
Spina Bifida Cystica |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Total spina bifida cystica |
Spina Bifida Cystica |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Upper thoracic spina bifida aperta |
Upper Thoracic Spina Bifida Aperta |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Upper thoracic spina bifida cystica |
Upper Thoracic Spina Bifida Cystica |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vesico-Ureteral Reflux |
Vesicoureteral Reflux |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |