| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
34700051 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arteriosclerosis |
Arteriosclerosis |
BEFREE |
11292833, 20413730 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
BEFREE |
24560518 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
BEFREE |
11292833, 20413730 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| B-CELL MALIGNANCY, LOW-GRADE |
Lymphocytic Leukemia |
BEFREE |
15648093 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
17160893 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy, Dilated |
Cardiomyopathy |
BEFREE |
30903008 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholangiocarcinoma |
Cholangiocarcinoma |
Pubtator |
33299012 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Lymphocytic Leukemia |
Lymphocytic Leukemia |
BEFREE |
15648093 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Obstructive Airway Disease |
Chronic Obstructive Pulmonary Disease |
BEFREE |
26771213 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
28449687 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Combined oxidative phosphorylation defect type 4 |
Combined Oxidative Phosphorylation Deficiency |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Combined Oxidative Phosphorylation Deficiency 4 |
Combined Oxidative Phosphorylation Deficiency |
ORPHANET_DG |
17160893 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Combined Oxidative Phosphorylation Deficiency 4 |
Combined Oxidative Phosphorylation Deficiency |
GENOMICS_ENGLAND_DG |
17160893, 26741492, 27604308, 28132884 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Combined Oxidative Phosphorylation Deficiency 4 |
Combined Oxidative Phosphorylation Deficiency |
UNIPROT_DG |
17160893 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Combined Oxidative Phosphorylation Deficiency 4 |
Combined Oxidative Phosphorylation Deficiency |
BEFREE |
30903008 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Combined Oxidative Phosphorylation Deficiency 4 |
Combined Oxidative Phosphorylation Deficiency |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Combined Oxidative Phosphorylation Deficiency 4 |
Combined Oxidative Phosphorylation Deficiency |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Abnormalities |
Congenital abnormalities |
Pubtator |
17033963 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
28645610 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cytochrome c Oxidase Deficiency |
Cytochrome c oxidase deficiency |
Pubtator |
28132884 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental regression |
Developmental regression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
39280009 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalopathies |
Epileptic encephalopathy |
BEFREE |
30903008 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalopathies |
Epileptic encephalopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophagus Neoplasm |
CTD_human_DG |
15986332 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Inflammatory Bowel Diseases |
Inflammatory Bowel Disease |
BEFREE |
24956270 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Bowel Diseases |
Inflammatory bowel disease |
Pubtator |
24956270 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Diseases |
Kidney disease |
Pubtator |
39280009 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukodystrophy |
Leukodystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukodystrophy Metachromatic |
Metachromatic leukodystrophy |
Pubtator |
17160893, 28132884 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukoencephalopathy |
Leukoencephalopathy |
BEFREE |
28132884 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of esophagus |
Esophagus Neoplasm |
CTD_human_DG |
15986332 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial cardiomyopathy |
Mitochondrial Cardiomyopathy |
BEFREE |
30903008 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
21169334, 25735936 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neonatal Hypotonia |
Hypotonia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nervous System Diseases |
Nervous system disease |
Pubtator |
39280009 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
BEFREE |
24560518 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
Pubtator |
26449484 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
BEFREE |
24956270 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polymicrogyria |
Polymicrogyria |
Pubtator |
17160893, 28132884 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polymicrogyria |
Polymicrogyria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Disease Chronic Obstructive |
Chronic obstructive pulmonary disease |
Pubtator |
26771213 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
28645610 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Failure |
Respiratory Failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
26876213 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ulcerative Colitis |
Ulcerative colitis |
BEFREE |
24956270 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |