| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Autism Spectrum Disorder |
Autism |
Pubtator |
27404287 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Chronic Hepatitis |
Autoimmune hepatitis |
LHGDN |
14768949 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autonomic Nervous System Diseases |
Autonomic nervous system disease |
Pubtator |
20077949 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Biliary cirrhosis |
Biliary cirrhosis |
LHGDN |
14768949 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Borderline Personality Disorder |
Borderline personality disorder |
BEFREE |
30036173, 30179577 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
29230524, 30292265 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
36860124 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
37383233 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy Dilated |
Dilated cardiomyopathy |
Pubtator |
30541556 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy, Familial Idiopathic |
Cardiomyopathy |
BEFREE |
10102567, 9873825 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Central Nervous System Neoplasms |
Central Nervous System Neoplasms |
GWASDB_DG |
19578366 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Classic maple syrup urine disease |
Maple Syrup Urine Disease |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Classic Maple Syrup Urine Disease |
Maple Syrup Urine Disease |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Depressive Disorder Major |
Major depressive disorder |
Pubtator |
40149491 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes mellitus |
Pubtator |
37773841 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysautonomia Familial |
Dysautonomia |
Pubtator |
20077949 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dystonia Disorders |
Dystonia |
BEFREE |
22046030 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eating Disorders |
Eating Disorders |
BEFREE |
29247895 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fuchs' Endothelial Dystrophy |
Fuchs endothelial dystrophy |
Pubtator |
20825314, 23185296 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
19824039 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
9668116 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
19824039 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
GWASDB_DG |
19578366 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hallucinations |
Hallucinations |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Diseases |
Heart Diseases |
BEFREE |
9873825 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Injuries |
Cardiac injury |
Pubtator |
36988255 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Angioedema Type III |
Hereditary angioedema |
Pubtator |
11398990 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoglycemia |
Hypoglycemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intermediate maple syrup urine disease |
Maple Syrup Urine Disease |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Intermediate Maple Syrup Urine Disease |
Maple Syrup Urine Disease |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Intermittent maple syrup urine disease |
Maple Syrup Urine Disease |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Intermittent Maple Syrup Urine Disease |
Maple Syrup Urine Disease |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ketosis |
Ketosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia |
Leukemia |
Pubtator |
30593567 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
30593567 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Cirrhosis Biliary |
Liver cirrhosis |
Pubtator |
36827343, 39769438 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
29230524, 30292265 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
30292265, 31548614 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Maple Syrup Urine Disease |
Maple Syrup Urine Disease |
CLINGEN_DG |
10915611, 16579849, 1990841, 22046030, 22727569, 24486081, 26683372, 28417071, 28919799, 9621512 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Maple Syrup Urine Disease |
Maple Syrup Urine Disease |
LHGDN |
11509994, 17922217, 18378174 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Maple Syrup Urine Disease |
Maple Syrup Urine Disease |
BEFREE |
14508502, 14741190, 16786533, 17922217, 1847055, 20431954, 22046030, 22326532, 22727569, 24770567, 26453840, 26901124, 28830848, 29306928, 29307017, 29366676, 31548614, 31830945 View all (3 more) |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Maple Syrup Urine Disease |
Maple Syrup Urine Disease |
CLINVAR_DG |
14517957, 16468966, 16786533, 18378174, 1847055, 20307994, 20570198, 20639189, 21098507, 24394677, 24772966, 25255367, 26257134, 26589311, 27518768, 28417071, 8430702, 9239422 View all (3 more) |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Maple Syrup Urine Disease |
Maple Syrup Urine Disease |
UNIPROT_DG |
1847055, 9621512 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Maple Syrup Urine Disease |
Maple syrup urine disease |
Pubtator |
24268812, 24486081, 29366676, 31830945, 32515140, 33131499, 33955723, 35799415, 8430702 |
Associate |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Maple Syrup Urine Disease |
Maple Syrup Urine Disease |
GENOMICS_ENGLAND_DG |
31112740, 31119508 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Maple Syrup Urine Disease |
Maple Syrup Urine Disease |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Maple Syrup Urine Disease, Thiamine Responsive |
Maple Syrup Urine Disease |
BEFREE |
1847055 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Maple Syrup Urine Disease, Thiamine Responsive |
Maple Syrup Urine Disease |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MAPLE SYRUP URINE DISEASE, TYPE II |
Maple Syrup Urine Disease |
GENOMICS_ENGLAND_DG |
27604308 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MAPLE SYRUP URINE DISEASE, TYPE II |
Maple Syrup Urine Disease |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Melanoma |
Melanoma |
Pubtator |
30792348 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
31548614 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
36827343 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Diseases |
Neurodegenerative disorder |
Pubtator |
24486081 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Noninfiltrating Intraductal Carcinoma |
Ductal carcinoma |
BEFREE |
30292265 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoarthritis |
Osteoarthritis |
Pubtator |
36671512, 37809099 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
23757313 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatitis |
Pancreatitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Periodontitis |
Periodontitis |
Pubtator |
37215133 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Post-Traumatic Stress Disorder |
Stress Disorder |
BEFREE |
29372016, 31476252 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary biliary cirrhosis |
Biliary Cirrhosis |
BEFREE |
14599987, 8617422, 9873825 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
24079846 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
BEFREE |
22046030 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin Diseases |
Skin disease |
Pubtator |
24486081 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
36618352 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
35874675 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |