| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bohring syndrome |
Bohring syndrome |
Pubtator |
34121041 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases Developmental |
Bone disease |
Pubtator |
32697994 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
29685157 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cafe-au-lait macules with pulmonary stenosis |
Cafe-Au-Lait Macules With Pulmonary Stenosis |
CTD_human_DG |
17704776 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) |
Capillary Malformation-Arteriovenous Malformation |
BEFREE |
28643916 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic myeloproliferative disorder |
Myeloproliferative disorder |
BEFREE |
29706577 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital neurologic anomalies |
Drachtman Weinblatt Sitarz syndrome |
CTD_human_DG |
17704776 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cranioschisis |
Anencephaly |
CTD_human_DG |
17704776 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
22525256 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes mellitus |
Pubtator |
29942117 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
11493923, 17704776, 19366998, 19443465, 19920235, 20179001, 20339110, 21089071, 21495177, 21548021, 21649642, 22753041, 24334617, 3128965 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hamartoma Syndrome, Multiple |
Hamartoma |
BEFREE |
22707495 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hepatolenticular Degeneration |
Hepatolenticular degeneration |
Pubtator |
36071243 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic pulmonary arterial hypertension |
Pulmonary arterial hypertension |
BEFREE |
24977625 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Learning Disabilities |
Learning disorders |
Pubtator |
26635368, 27322474 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Legius syndrome |
Legius Syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| leukemia |
Leukemia |
BEFREE |
24469042 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia |
Leukemia |
Pubtator |
35412895 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
30745814 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
35412895 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Promyelocytic Acute |
Promyelocytic leukemia |
Pubtator |
30745814 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
24469042, 30745814 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
LHGDN |
16652141 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly |
Macrocephaly |
BEFREE |
19920235, 21548021, 24469042, 26635368 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
29685157 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
23169297 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
30385465 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
30385465 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Melanoma |
Melanoma |
Pubtator |
30657954 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Meningioma |
Meningioma |
Pubtator |
26943583 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple congenital anomalies |
Multiple Congenital Anomalies |
CLINVAR_DG |
11493923, 17704776, 19366998, 19443465, 19920235, 20179001, 20339110, 21089071, 21495177, 21548021, 21649642, 22753041, 24334617, 3128965 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple lipomata |
Multiple Lipomata |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myeloid Leukemia, Chronic |
Myeloid Leukemia |
BEFREE |
29505034 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myeloproliferative disease |
Myeloproliferative disorder |
BEFREE |
29706577 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
20602485, 24469042, 30745814 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| neurofibroma |
Neurofibroma |
BEFREE |
19366998, 19443465 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| neurofibroma |
Neurofibroma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurofibromatoses |
Neurofibromatosis |
BEFREE |
19366998, 19443465, 20179001 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurofibromatoses |
Neurofibromatosis |
Pubtator |
20179001 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurofibromatosis 1 |
Neurofibromatosis |
BEFREE |
17704776, 19366998, 19443465, 19920235, 19966658, 20179001, 20602485, 22438235, 22751498, 23016555, 23401230, 23947441, 24469042, 25074460, 27322474, 28150585, 28503822, 29681099, 30014477, 30290804, 31401120, 31573083 View all (7 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neurofibromatosis 1 |
Neurofibromatosis |
LHGDN |
17704776 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neurofibromatosis 1 |
Neurofibromatosis |
CTD_human_DG |
17704776 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neurofibromatosis 1 |
Neurofibromatosis |
Pubtator |
20179001, 20602485, 31443423, 32147744 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME |
Neurofibromatosis |
CLINVAR_DG |
15683364, 17704776, 19366998, 19443465, 19920235, 20179001, 21089071, 21649642, 22751498, 25074460, 25981987 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME |
Neurofibromatosis |
GENOMICS_ENGLAND_DG |
17704776, 19366998, 19443465, 21548021, 23875798, 27423141 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME |
Neurofibromatosis |
CLINGEN_DG |
17704776, 21089071, 27313208, 27503857 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME |
Neurofibromatosis |
UNIPROT_DG |
17704776, 19443465, 20108422, 21089071 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME |
Neurofibromatosis |
BEFREE |
19366998, 19443465, 19966658, 20179001, 20602485, 21548021, 22751498, 22753041, 23016555, 24469042, 25981987, 26635368, 27322474, 27503857, 28150585, 28643916, 31401120 View all (2 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME |
Neurofibromatosis |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Noonan Syndrome |
Noonan Syndrome |
BEFREE |
28643916 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Noonan Syndrome |
Noonan syndrome |
Pubtator |
32107864 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Piebaldism |
Piebaldism |
BEFREE |
22438235, 23016555 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Plexiform Neurofibroma |
Plexiform neurofibroma |
BEFREE |
19920235 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
23169297 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psoriasis |
Psoriasis |
BEFREE |
31629629 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoidosis |
Sarcoidosis |
Pubtator |
22984568 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Specific learning disability |
Specific Learning Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
25202123 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vascular Diseases |
Vascular disease |
Pubtator |
29942117 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |