| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute pancreatitis |
Pancreatitis |
BEFREE |
31539805 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of lung (disorder) |
Lung adenocarcinoma |
CTD_human_DG |
27602772 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amino Acid Metabolism, Inborn Errors |
Disorder of amino acid metabolism |
CTD_human_DG |
15024124 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Amino Acid Metabolism, Inherited Disorders |
Inherited Errors of Amino Acid Metabolism |
CTD_human_DG |
15024124 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Antithrombin III Deficiency |
Antithrombin Deficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Aneurysm Abdominal |
Aortic aneurysm |
Pubtator |
20871623 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Aneurysm, Abdominal |
Aortic Aneurysm |
BEFREE |
18635682 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Dissection |
Aortic dissection |
Pubtator |
20871623 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arteriosclerosis |
Arteriosclerosis |
BEFREE |
18591246 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
BEFREE |
18591246 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune Diseases |
BEFREE |
29155016, 31842999 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Ischemia |
Brain ischemia |
Pubtator |
32020847 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
31340867 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
18084325, 36361596 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
26527160, 28459194, 31959915 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Pancreatic Ductal |
Pancreatic ductal carcinoma |
Pubtator |
33753854 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Hypoplasia |
Cerebellar Hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral Infarction |
Ischemic stroke |
Pubtator |
32020847, 33138824 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chondrosarcoma |
Chondrosarcoma |
BEFREE |
31613064 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Obstructive Airway Disease |
Chronic Obstructive Pulmonary Disease |
BEFREE |
18635682 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
21220475 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic Neoplasms |
LHGDN |
18713839 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
31392094 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
23341073 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital disorder of glycosylation type 1A |
Congenital disorder of glycosylation |
BEFREE |
22959829 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cystathionine beta-Synthase Deficiency Disease |
Cystathionine Beta-Synthase Deficiency Disease |
BEFREE |
31131233 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Degenerative polyarthritis |
Arthritis |
BEFREE |
28744016 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental regression |
Developmental regression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esotropia |
Esotropia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver |
Fatty Liver |
BEFREE |
19201949 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver Disease |
Fatty Liver |
BEFREE |
29127188 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibrinogen Deficiency |
Fibrinogen Deficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
19934320 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glomerulonephritis |
Glomerulonephritis |
BEFREE |
30696480 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hepatic Form of Wilson Disease |
Hepatolenticular degeneration |
CTD_human_DG |
23519153 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hepatic methionine adenosyltransferase deficiency |
Hepatic Methionine Adenosyltransferase Deficiency |
CTD_human_DG |
26974671 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hepatolenticular Degeneration |
Hepatolenticular Degeneration |
BEFREE |
23519153, 30010856 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hepatolenticular Degeneration |
Hepatolenticular Degeneration |
CTD_human_DG |
23519153 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hydrops Fetalis |
Hydrops Fetalis |
BEFREE |
20852937 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrops Fetalis |
Hydrops Fetalis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperhomocysteinemia |
Hyperhomocysteinemia |
BEFREE |
28288933, 31131233 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypermethioninemia due to deficiency of glycine N-methyltransferase |
Glycine N-methyltransferase deficiency |
CTD_human_DG |
26974671 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoalbuminemia |
Hypoalbuminemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypofibrinogenemia |
Hypofibrinogenemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immune System Diseases |
Immune system disease |
Pubtator |
312296 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immune thrombocytopenic purpura |
Immune Thrombocytopenic Purpura |
LHGDN |
18683034 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia |
Leukemia |
Pubtator |
37951201 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
37951201 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
19638619 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
29127188, 30228286 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Diseases |
Liver disease |
Pubtator |
26527160 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Failure |
Liver failure |
BEFREE |
30121674 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus, Systemic |
Lupus Erythematosus |
BEFREE |
30696480 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Nephritis |
Lupus Nephritis |
BEFREE |
30696480 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
31340867 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
19934320, 30228286 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
21220475 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
BEFREE |
20634887 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Dystrophy |
Muscular dystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
10213491, 27876123 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
Pubtator |
25477524, 36361596 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-alcoholic Fatty Liver Disease |
Non-Alcoholic Fatty Liver Disease |
CTD_human_DG |
29127188 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nonalcoholic Steatohepatitis |
Non-alcoholic Fatty Liver Disease |
BEFREE |
29127188 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nonalcoholic Steatohepatitis |
Non-alcoholic Fatty Liver Disease |
CTD_human_DG |
29127188 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Psoriasis |
Psoriasis |
BEFREE |
29155016 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Failure |
Respiratory Failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| S-adenosylhomocysteine hydrolase deficiency |
S-Adenosylhomocysteine Hydrolase Deficiency |
CLINGEN_DG |
13641268, 15024124, 16736098, 20852937, 22959829, 26095522, 26527160, 27626380, 27848944, 30121674 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| S-adenosylhomocysteine hydrolase deficiency |
S-Adenosylhomocysteine Hydrolase Deficiency |
UNIPROT_DG |
15024124, 16736098, 19177456, 20852937 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| S-adenosylhomocysteine hydrolase deficiency |
S-Adenosylhomocysteine Hydrolase Deficiency |
GENOMICS_ENGLAND_DG |
15024124, 20852937 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| S-adenosylhomocysteine hydrolase deficiency |
S-Adenosylhomocysteine Hydrolase Deficiency |
ORPHANET_DG |
16435181 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| S-adenosylhomocysteine hydrolase deficiency |
S-Adenosylhomocysteine Hydrolase Deficiency |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| S-adenosylhomocysteine hydrolase deficiency |
S-Adenosylhomocysteine Hydrolase Deficiency |
CTD_human_DG |
26974671 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| S-adenosylhomocysteine hydrolase deficiency |
S-Adenosylhomocysteine Hydrolase Deficiency |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sensorimotor neuropathy |
Sensorimotor neuropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe combined immunodeficiency due to adenosine deaminase deficiency |
Severe combined immunodeficiency |
Pubtator |
312296 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin lesion |
Skin Lesion |
BEFREE |
29155016 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
24430301 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
34709988 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Steatohepatitis |
Fatty Liver |
BEFREE |
19201949 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
35036435 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
32065779 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |