| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute Kidney Insufficiency |
Acute Kidney Insufficiency |
CTD_human_DG |
20030531 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute lymphocytic leukemia |
Lymphocytic Leukemia |
BEFREE |
29048676 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute pancreatitis |
Pancreatitis |
BEFREE |
29511434 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Hodgkin Lymphoma |
Hodgkin Lymphoma |
BEFREE |
30764825 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis |
Amyotrophic lateral sclerosis |
Pubtator |
32779864 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ankylosing spondylitis |
Ankylosing Spondylitis |
BEFREE |
30031384 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anorexia Nervosa |
Anorexia |
BEFREE |
29261731 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arteriosclerosis |
Arteriosclerosis |
BEFREE |
29739755 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis |
Arthritis |
BEFREE |
3515562 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
BEFREE |
29739755 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune Diseases |
BEFREE |
28679751 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
18227151, 21878642 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
30296076 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
BEFREE |
28701670 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
Pubtator |
19409522 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholangiocarcinoma |
Cholangiocarcinoma |
BEFREE |
15982324 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cirrhosis |
Cirrhosis |
BEFREE |
15982324 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
25778301 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
36181326 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Congenital diaphragmatic hernia |
Congenital diaphragmatic hernia |
BEFREE |
31345115 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cytochrome c Oxidase Deficiency |
Cytochrome c oxidase deficiency |
Pubtator |
19409522 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Degenerative polyarthritis |
Arthritis |
BEFREE |
28258830, 30031384, 30081183, 30234618 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
19409522 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes |
Diabetes |
BEFREE |
19120287, 27705028, 27835059 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
19120287, 25722213, 27705028, 27835059 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes mellitus |
Pubtator |
27994073 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
19120287 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
27705028, 28495421 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Ketoacidosis |
Diabetic Ketoacidosis |
BEFREE |
30026816 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Retinopathy |
Diabetic Retinopathy |
BEFREE |
20424224, 25722213, 26580232, 27835059, 31777552 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eosinophilic esophagitis |
Eosinophilia |
BEFREE |
31498177 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
31427480 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver |
Fatty Liver |
BEFREE |
28704337, 29323715, 30540918 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver Disease |
Fatty Liver |
BEFREE |
28877220 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibrosis, Liver |
Liver Fibrosis |
BEFREE |
22033404, 30251695, 31166951 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematologic Neoplasms |
Hematologic Neoplasms |
BEFREE |
28876364 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematologic Neoplasms |
Hematologic neoplasm |
Pubtator |
30408048 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hermaphroditism |
Hermaphroditism |
BEFREE |
29950505 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hodgkin Disease |
Hodgkin Disease |
BEFREE |
30764825 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperglycemia |
Hyperglycemia |
BEFREE |
28993702 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
28155230 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kearns-Sayre syndrome |
Kearns Sayre Syndrome |
BEFREE |
30280217 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Failure, Acute |
Kidney Failure |
CTD_human_DG |
20030531 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Kidney Failure, Acute |
Kidney Failure |
BEFREE |
20332418, 25633409, 30680481, 30993878, 31822044 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Kidney Neoplasms |
Kidney neoplasm |
Pubtator |
32025001 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
32416059 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
15982324, 19502170, 20943458, 21152698, 25778301, 28825695, 29633440 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Cirrhosis |
Liver Cirrhosis |
BEFREE |
15982324, 25778301, 28061452 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Cirrhosis |
Liver Cirrhosis |
LHGDN |
15982324 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Failure |
Liver failure |
BEFREE |
20943458, 29633440 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Failure, Acute |
Liver failure |
CTD_human_DG |
15968720 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Liver Failure, Acute |
Liver failure |
BEFREE |
20332418, 28061452 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lung diseases |
Lung Diseases |
BEFREE |
3515562 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoid leukemia |
Lymphoid leukemia |
BEFREE |
29048676 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Major Depressive Disorder |
Mental Depression |
BEFREE |
30618870 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
30296076 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
15982324, 25778301, 26552699, 28668825, 28698145, 28825695, 31526056 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
25778301 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial Diseases |
BEFREE |
19409522, 26018198 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
19409522 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial Diseases |
Mitochondrial Diseases |
CLINVAR_DG |
28812649 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mitochondrial Encephalomyopathies |
Mitochondrial encephalomyopathy |
BEFREE |
26018198 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Respiratory Chain Deficiencies |
Mitochondrial Respiratory Chain Deficiencies |
BEFREE |
28155230 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
BEFREE |
28876364 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy |
Myopathy |
BEFREE |
20593814, 25269795 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy |
Myopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay |
Myopathy, Mitochondrial With Congenital Cataract, Hearing Loss, And Developmental Delay |
BEFREE |
19409522 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay |
Myopathy, Mitochondrial With Congenital Cataract, Hearing Loss, And Developmental Delay |
ORPHANET_DG |
19409522 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay |
Myopathy, Mitochondrial With Congenital Cataract, Hearing Loss, And Developmental Delay |
GENOMICS_ENGLAND_DG |
19409522, 27604308, 28155230 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay |
Myopathy, Mitochondrial With Congenital Cataract, Hearing Loss, And Developmental Delay |
CLINVAR_DG |
19409522, 20593814 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay |
Myopathy, Mitochondrial With Congenital Cataract, Hearing Loss, And Developmental Delay |
UNIPROT_DG |
19409522, 20593814 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay |
Myopathy, Mitochondrial With Congenital Cataract, Hearing Loss, And Developmental Delay |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
21152698, 25778301, 28668825 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegeneration with brain iron accumulation (NBIA) |
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness |
BEFREE |
21816641 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
21816641 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
BEFREE |
27705028, 28993702 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
BEFREE |
29250102 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
BEFREE |
15277434, 28495421 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Neuropathy |
Peripheral Neuropathy |
BEFREE |
15277434, 28495421 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peritoneal Fibrosis |
Peritoneal Fibrosis |
BEFREE |
9845827 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| POLYCYSTIC KIDNEY DISEASE 1 |
Polycystic kidney disease |
BEFREE |
8575761 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Lymphoblastic Leukemia |
BEFREE |
29048676 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor T-Cell Lymphoblastic Leukemia-Lymphoma |
Lymphoblastic Leukemia |
BEFREE |
29048676 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Progressive cataract |
Cataract |
BEFREE |
20593814 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Proliferative diabetic retinopathy |
Proliferative Diabetic Retinopathy |
BEFREE |
25722213 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rotary Nystagmus |
Rotary nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schwartz-Jampel Syndrome |
Schwartz-Jampel Syndrome |
BEFREE |
31314143 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
BEFREE |
21185929 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic paraplegia 15 autosomal recessive |
Spastic paraplegia |
Pubtator |
30081747 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Steatohepatitis |
Fatty Liver |
BEFREE |
28704337, 29323715, 30540918 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Toxic Epidermal Necrolysis |
Stevens-Johnson Syndrome |
BEFREE |
31314143 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Visceral myopathy familial external ophthalmoplegia |
Visceral neuropathy |
Pubtator |
19772189 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |