| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| 2-3 toe syndactyly |
Syndactyly Of The Toes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acquired cubitus valgus |
Cubitus valgus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute lymphocytic leukemia |
Lymphocytic Leukemia |
BEFREE |
27903646 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of lung (disorder) |
Lung adenocarcinoma |
BEFREE |
31700175 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenomatous Polyposis Coli |
Multiple polyposis syndrome |
BEFREE |
25654358 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Acute Lymphocytic Leukemia |
Lymphocytic Leukemia |
BEFREE |
27903646 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Allergic rhinitis (disorder) |
Allergic rhinitis |
BEFREE |
19650845, 30368403 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anaplastic thyroid carcinoma |
Anaplastic thyroid cancer |
BEFREE |
28489587 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arteriosclerosis |
Arteriosclerosis |
BEFREE |
30209193 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
BEFREE |
30682452, 31123109, 31157540 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
Pubtator |
31903716, 32277847, 36835202, 38551536 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
BEFREE |
30209193 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune Diseases |
BEFREE |
31552057 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bartter Disease |
Bartter syndrome |
BEFREE |
10864591, 12761627, 15709978 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Behcet Syndrome |
Behcet disease |
Pubtator |
37102643 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blood Coagulation Disorders |
Blood coagulation disorder |
Pubtator |
37454491 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases |
Bone Disease |
BEFREE |
31248987 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases |
Bone disease |
Pubtator |
33430863 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases Metabolic |
Bone disease |
Pubtator |
33430863 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bronchiolitis |
Bronchiolitis |
LHGDN |
17166282 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bronchiolitis |
Bronchiolitis |
Pubtator |
17166282 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Celiac Disease |
Celiac disease |
BEFREE |
19758173 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Acute Lymphoblastic Leukemia |
Lymphoblastic Leukemia |
BEFREE |
27903646 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic rhinosinusitis with nasal polyps |
Rhinosinusitis With Nasal Polyps |
BEFREE |
29754498, 29961347 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic sinusitis |
Sinusitis |
BEFREE |
28322448 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly |
Clinodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of fingers |
Clinodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cold-induced sweating syndrome |
Cold-Induced Sweating Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COLD-INDUCED SWEATING SYNDROME 1 |
Cold-Induced Sweating Syndrome |
ORPHANET_DG |
1678282, 20400119 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COLD-INDUCED SWEATING SYNDROME 1 |
Cold-Induced Sweating Syndrome |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COLD-INDUCED SWEATING SYNDROME 2 |
Cold-Induced Sweating Syndrome |
UNIPROT_DG |
16782820 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| COLD-INDUCED SWEATING SYNDROME 2 |
Cold-Induced Sweating Syndrome |
CTD_human_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| COLD-INDUCED SWEATING SYNDROME 2 |
Cold-Induced Sweating Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Colitis |
Colitis |
Pubtator |
35085569 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colitis Ulcerative |
Ulcerative colitis |
Pubtator |
23388545, 25654358, 37891214 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
21716316 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
27182161 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
Pubtator |
36361563 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis |
Craniosynostosis |
BEFREE |
28322448, 31128376 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Crisponi syndrome |
Crisponi Syndrome |
ORPHANET_DG |
1678282, 20400119 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Crisponi syndrome |
Crisponi Syndrome |
BEFREE |
20400119 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Crisponi syndrome |
Crisponi Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Crisponi syndrome |
Crisponi syndrome |
Pubtator |
32512309 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Crisponi syndrome |
Crisponi Syndrome |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Crisponi syndrome |
Crisponi Syndrome |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Crohn Disease |
Crohn disease |
Pubtator |
37891214 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Degenerative polyarthritis |
Arthritis |
BEFREE |
19921088 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eosinophilic esophagitis |
Eosinophilia |
BEFREE |
28194801 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eosinophilic Esophagitis |
Eosinophilia |
Pubtator |
32197970, 39343172 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
15709978 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Facial paralysis |
Facial paralysis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Generalized Myotonia of Thomsen |
Congenital myotonia |
BEFREE |
10864591 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
12843258, 35265072 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
31129471 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Granulomatosis with Polyangiitis |
Granulomatosis with polyangiitis |
Pubtator |
33750029 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypereosinophilic Syndrome |
Hypereosinophilic syndrome |
Pubtator |
33750029 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
BEFREE |
26991533 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypohidrosis |
Hypohidrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic hypercalciuria |
Hypercalciuria |
BEFREE |
9519207 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immune System Diseases |
Immune System Diseases |
BEFREE |
30239701 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratoconus |
Keratoconus |
LHGDN |
16015083 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Calculi |
Kidney stone |
BEFREE |
11826292, 15709978 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Diseases |
Kidney Disease |
BEFREE |
11053039 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
LHGDN |
12031912 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Linear atrophy |
Atrophy |
BEFREE |
26013830 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
22846364, 23640968, 26198769, 28489587 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microscopic Polyangiitis |
Microscopic polyangiitis |
Pubtator |
23690996, 28569178 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microstomia |
Microstomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
Pubtator |
14632778 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myasthenia Gravis |
Myasthenia Gravis |
BEFREE |
27387891 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myasthenia Gravis |
Myasthenia gravis |
Pubtator |
27387891 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myotonia Congenita |
Myotonia Congenita |
BEFREE |
10864591 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasal Polyps |
Nasal polyposis |
BEFREE |
28322448 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasal Polyps |
Nasal polyp |
Pubtator |
28322448 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal carcinoma |
Nasopharyngeal Carcinoma |
BEFREE |
31438994 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
31309731, 31700175 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrolithiasis |
Nephrolithiasis |
BEFREE |
11826292, 15709978 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteopetrosis |
Osteopetrosis |
BEFREE |
15709978 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
BEFREE |
31248987, 9519207 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
Pubtator |
33430863 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis, Postmenopausal |
Osteoporosis |
BEFREE |
28028720 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psoriasis |
Psoriasis |
BEFREE |
30073123 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Disease Chronic Obstructive |
Chronic obstructive pulmonary disease |
Pubtator |
40133927 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Tract Diseases |
Respiratory system infectious disease |
Pubtator |
22654612 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorimotor neuropathy |
Sensorimotor neuropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach Neoplasms |
BEFREE |
31309731 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thoracolumbar scoliosis |
Thoracolumbar scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vasculitis |
Vasculitis |
Pubtator |
33750029 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |