| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Amyotrophic Lateral Sclerosis |
Amyotrophic lateral sclerosis |
Pubtator |
40185066 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic lateral sclerosis 1 |
Amyotrophic lateral sclerosis |
Pubtator |
40185066 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthrogryposis |
Arthrogryposis multiplex congenita |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune disease |
Pubtator |
34539672 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Neoplasms |
Brain Neoplasms |
BEFREE |
16166308, 19703316 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Neoplasms |
Brain neoplasms |
Pubtator |
19703316 |
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 |
| Clinodactyly of the 5th finger |
Camptodactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
30231850 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital absence of breast |
Breast aplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deglutition Disorders |
Dysphagia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermatomyositis |
Dermatomyositis |
Pubtator |
18671865 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometriosis |
Endometriosis |
BEFREE |
30251099 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Facial paralysis |
Facial paralysis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontotemporal Dementia |
Frontotemporal dementia |
Pubtator |
34539672 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Failure, Diastolic |
Heart Failure |
CTD_human_DG |
29556499 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hemorrhage |
Hemorrhage |
Pubtator |
38103737 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertension |
Hypertension |
Pubtator |
38103737 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadotropic hypogonadism |
Hypogonadotropic Hypogonadism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
27572291 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
19703316, 31152824 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanocytic nevus |
Melanocytic nevus |
BEFREE |
18974298 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
18974298, 19703316 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Diseases |
Metabolic Diseases |
BEFREE |
28792859 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microdontia (disorder) |
Microdontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mobius II syndrome |
Mobius Syndrome |
ORPHANET_DG |
26068067 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mobius Syndrome |
Mobius Syndrome |
BEFREE |
15301830, 26068067, 31033088, 31152824 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mobius Syndrome |
Mobius Syndrome |
LHGDN |
15301830 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mobius Syndrome |
Mobius Syndrome |
GENOMICS_ENGLAND_DG |
24254849 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mobius Syndrome |
Mobius Syndrome |
ORPHANET_DG |
26068067 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mobius Syndrome |
Mobius syndrome |
Pubtator |
31033088 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Moebius syndrome |
Moebius Syndrome |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
18974298, 19703316, 20664171, 31152824 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
21559368 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scleroderma Systemic |
Systemic sclerosis |
Pubtator |
26292963, 32971928 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
27572291 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly of fingers |
Syndactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Truncus Arteriosus, Persistent |
Persistent truncus arteriosus |
BEFREE |
24254849, 31152824 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Truncus Arteriosus, Persistent |
Persistent truncus arteriosus |
ORPHANET_DG |
24254849 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Truncus Arteriosus, Persistent |
Persistent truncus arteriosus |
GENOMICS_ENGLAND_DG |
25713110 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |