| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acquired partial lipodystrophy |
Acquired Partial Lipodystrophy |
BEFREE |
17467691 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute Promyelocytic Leukemia |
Promyelocytic Leukemia |
BEFREE |
31635050 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of lung (disorder) |
Lung adenocarcinoma |
CTD_human_DG |
27602772 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult onset autosomal dominant leukodystrophy |
Leukodystrophy |
BEFREE |
19287139, 23681646, 25532872, 28769756, 31695592 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult onset autosomal dominant leukodystrophy |
Leukodystrophy |
ORPHANET_DG |
23649844 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Pelizaeus-Merzbacher Disease |
Pelizaeus-Merzbacher Disease |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult-onset autosomal dominant leukodystrophy |
Leukodystrophy |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agenesis of Corpus Callosum |
Corpus callosum agenesis |
Pubtator |
32910914 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ameloblastoma |
Ameloblastoma |
Pubtator |
25991665 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyloidosis |
Amyloidosis |
BEFREE |
22119712 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis |
Amyotrophic Lateral Sclerosis |
BEFREE |
20352044, 28434507, 28631957, 30662429, 30666448 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anencephaly |
Anencephaly |
BEFREE |
23166514 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arteriosclerosis |
Arteriosclerosis |
BEFREE |
21778424 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ataxia |
Ataxia |
Pubtator |
26053668 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ataxia Telangiectasia |
Ataxia telangiectasia |
Pubtator |
22246186 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
BEFREE |
21778424 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrophy of corpus callosum |
Atrophy Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrophy of the spinal cord |
Atrophy of the spinal cord |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autonomic bladder dysfunction |
Dysautonomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autonomic nervous system disorders |
Autonomic Central Nervous System Diseases |
BEFREE |
19151023, 24128683 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal Recessive Primary Microcephaly |
Primary microcephaly |
Pubtator |
32910914, 33033404 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
24293108 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
24293108, 32705365, 33948615, 34237080 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
34459389 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
30897324, 34810266, 35436411 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
34511484, 36405011 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
31015297 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy, Familial Idiopathic |
Cardiomyopathy |
BEFREE |
28844980 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carotid Atherosclerosis |
Carotid Atherosclerosis |
BEFREE |
20796278 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Central Nervous System Diseases |
Central nervous system disease |
Pubtator |
23873483 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral cortical atrophy |
Cerebral cortical atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Lymphocytic Leukemia |
Lymphocytic Leukemia |
BEFREE |
28804121 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Obstructive Airway Disease |
Chronic Obstructive Pulmonary Disease |
BEFREE |
30692212 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cirrhosis Cryptogenic |
Cirrhosis |
Pubtator |
30878663 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Classic Pelizaeus-Merzbacher Disease |
Pelizaeus-Merzbacher disease |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cockayne-Pelizaeus-Merzbacher Disease |
Cockayne Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
29115590 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Diseases |
Colonic disease |
Pubtator |
10517909 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
10517909, 29115590 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
20846378, 24732130, 39390002 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
31402955 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Degenerative polyarthritis |
Arthritis |
BEFREE |
25797039 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deglutition Disorders |
Dysphagia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Demyelinating Diseases |
Demyelinating Diseases |
BEFREE |
10749986, 23649844, 26311780 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Demyelinating Diseases |
Demyelinating diseases |
Pubtator |
23873483, 35247231 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diffuse Large B-Cell Lymphoma |
Diffuse Lymphoma |
BEFREE |
11222085 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Down Syndrome |
Down syndrome |
Pubtator |
37451904 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysautonomia |
Dysautonomia |
BEFREE |
19151023, 24128683 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dystonia |
Dystonia |
Pubtator |
34438319 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometriosis |
Endometriosis |
BEFREE |
29417283 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometriosis |
Endometriosis |
Pubtator |
35269619, 36277723, 39411815 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Erectile dysfunction |
Erectile Dysfunction |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophageal neoplasm |
Pubtator |
34511484 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial partial lipodystrophy |
Partial Lipodystrophy |
BEFREE |
11393540 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Neoplasms |
Gastrointestinal neoplasm |
Pubtator |
10517909 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
33956061 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
32910914 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE |
Hypercholesterolemia |
BEFREE |
21778424 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypohidrosis |
Hypohidrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
BEFREE |
25756794 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
32910914 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intestinal Diseases |
Intestinal Diseases |
BEFREE |
26752409 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia |
Leukemia |
Pubtator |
24990611 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
32161403, 35395184 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukodystrophy |
Leukodystrophy |
BEFREE |
16951681, 17467691, 19961535, 23649844, 23676464, 23681646, 24858279, 26053668, 27854160, 30192380 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukodystrophy |
Leukodystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukodystrophy Metachromatic |
Metachromatic leukodystrophy |
Pubtator |
23261988, 23439683, 23649844, 23873483, 26053668, 30192380, 32910914, 33034697 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
Demyelinating Leukodystrophy |
BEFREE |
19961535, 21225301, 23649844 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
Demyelinating Leukodystrophy |
GENOMICS_ENGLAND_DG |
21225301, 21909802, 24357685 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
Demyelinating Leukodystrophy |
ORPHANET_DG |
23649844 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
19522540, 22903723, 30897324 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Cirrhosis |
Liver Cirrhosis |
BEFREE |
30897324 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
10517909 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus Systemic |
Systemic lupus erythematosus |
Pubtator |
12384929 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
Pubtator |
28804121 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma Follicular |
Lymphoma |
Pubtator |
28804121 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma, Follicular |
Lymphoma |
BEFREE |
28804121 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Childhood Neoplasm |
Malignant Neoplasm |
BEFREE |
29742327 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
24293108 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of liver |
Liver Cancer |
BEFREE |
19522540 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
31015297 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
23857605 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
31306099 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
23934658, 27760841, 28804121, 29415520, 29417283, 31015297 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
29115590 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
BEFREE |
29378184 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
35883595 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
Pubtator |
32910914 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Microcephaly autosomal dominant |
Microcephaly |
Pubtator |
32910914 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mild Mental Retardation |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
30692212 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mouth Diseases |
Mouth disease |
Pubtator |
35269619 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple Sclerosis |
BEFREE |
19001169, 19348623 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Dystrophy |
Muscular dystrophy |
BEFREE |
22431096 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myelodysplastic Syndromes |
Myelodysplastic syndrome |
Pubtator |
35395184 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
19522540, 31015297, 31402955 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
25701871, 26053668 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neural Tube Defects |
Neural Tube Defect |
BEFREE |
23166514, 23733478, 24380701 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neural Tube Defects |
Neural tube defect |
Pubtator |
23733478 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
24380701 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoarthritis |
Osteoarthritis |
Pubtator |
25797039 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
23857605 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Partial lipodystrophy |
Partial Lipodystrophy |
BEFREE |
17467691 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pelizaeus-Merzbacher Disease |
Pelizaeus-Merzbacher disease |
BEFREE |
23676464 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pelizaeus-Merzbacher Disease |
Pelizaeus-Merzbacher disease |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pelizaeus-Merzbacher Disease, Atypical |
Hypomyelinating Leukodystrophy |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pelizaeus-Merzbacher Disease, Transitional |
Hypomyelinating Leukodystrophy |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Progeria |
Progeria |
BEFREE |
21504799, 23439683 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
31306099 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
31306099, 34511484 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pseudobulbar Palsy |
Pseudobulbar Palsy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Disease Chronic Obstructive |
Chronic obstructive pulmonary disease |
Pubtator |
30692212 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Reticulosarcoma |
Reticulosarcoma |
BEFREE |
11222085 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinoblastoma |
Retinoblastoma |
BEFREE |
29742327 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
Pubtator |
35356902 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma Ewing |
Sarcoma |
Pubtator |
39367409 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Paraplegia Hereditary |
Hereditary spastic paraplegia |
Pubtator |
26053668 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spina Bifida |
Spina Bifida |
BEFREE |
23166514 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| SPINOCEREBELLAR ATAXIA 31 (disorder) |
Spinocerebellar Ataxia |
BEFREE |
22287014 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
10517909 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
27449096 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thrombosis |
Thrombosis |
Pubtator |
12384929 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
35685866 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
34511484 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |