| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute intermittent porphyria |
Intermittent Porphyria |
BEFREE |
25010670 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenomatous Polyps |
Adenomatous Polyposis |
BEFREE |
20929553 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anterior hypopituitarism |
Hypopituitarism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune Diseases |
BEFREE |
25010670 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bicuspid aortic valve |
Bicuspid aortic valve |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
25110199, 25896597 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
25110199 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY |
Cardiomyopathy, apical hypertrophic and neuropathy |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CARDIOMYOPATHY, INFANTILE HYPERTROPHIC |
Cardiomyopathy |
UNIPROT_DG |
19188198 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARDIOMYOPATHY, INFANTILE HYPERTROPHIC |
Cardiomyopathy |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Childhood Acute Lymphoblastic Leukemia |
Lymphoblastic Leukemia |
BEFREE |
28708239 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic progressive external ophthalmoplegia |
Progressive External Ophthalmoplegia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complete atrioventricular block |
Complete Atrioventricular Block |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
29208909 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
29208909 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diarrhea |
Diarrhea |
Pubtator |
23840124 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Distal Hereditary Motor Neuropathy Type II |
Distal hereditary motor neuropathy |
Pubtator |
22933740 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Essential Hypertension |
Hypertension |
Pubtator |
30326913 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma 3 Primary Congenital A |
Glaucoma |
Pubtator |
23401651 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemiplegia/hemiparesis |
Hemiplegia/hemiparesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Histiocytoid Cardiomyopathy |
Histiocytoid Cardiomyopathy |
CLINVAR_DG |
19188198, 26803244 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Huntington Disease |
Huntington disease |
Pubtator |
38447791 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertension |
Hypertension |
Pubtator |
19401720 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infertility Male |
Male infertility |
Pubtator |
36066780 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Irritable Bowel Syndrome |
Irritable bowel syndrome |
Pubtator |
23840124 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Isolated ATP synthase deficiency |
Isolated ATP Synthase Deficiency |
ORPHANET_DG |
21686774 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kearns-Sayre syndrome |
Kearns Sayre Syndrome |
ORPHANET_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leigh Disease |
Leigh Syndrome |
BEFREE |
16217706, 27502083 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leprosy |
Leprosy |
Pubtator |
38062538 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
25110199, 25896597 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial Diseases |
BEFREE |
27502083 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Multiple Sclerosis |
Multiple Sclerosis |
LHGDN |
17619138 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Multiple Sclerosis |
Multiple sclerosis |
Pubtator |
17619138, 35130313 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neuropathy |
Neuropathy |
BEFREE |
17954552 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuropathy ataxia and retinis pigmentosa |
Neuropathy Ataxia And Retinis Pigmentosa |
BEFREE |
27502083 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Neuropathy |
Optic Neuropathy |
CLINVAR_DG |
28027978 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Periodic paralysis with later-onset distal motor neuropathy |
Periodic Paralysis With Distal Motor Neuropathy |
ORPHANET_DG |
24153443 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Post-Traumatic Stress Disorder |
Stress Disorder |
BEFREE |
25756807 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary edema of mountaineers |
Pulmonary edema |
Pubtator |
31358833 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
37482618 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trichohepatoenteric Syndrome |
Trichohepatoenteric Syndrome |
BEFREE |
27502083 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |