| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Action Myoclonus-Renal Failure Syndrome |
Action Myoclonus-Renal Failure Syndrome |
BEFREE |
18308289, 19847901, 19933215, 21782476, 22032306, 22050460, 23659519, 24485911, 26018676, 27582254, 29941711 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Action Myoclonus-Renal Failure Syndrome |
Action Myoclonus-Renal Failure Syndrome |
CLINVAR_DG |
18308289, 18424452, 19454373, 19847901, 21670406, 21796727, 22032306, 22767442, 23225201, 23325613, 23659519, 24339182, 24485911, 24620919 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Action Myoclonus-Renal Failure Syndrome |
Action Myoclonus-Renal Failure Syndrome |
UNIPROT_DG |
18308289, 18424452, 19454373, 21670406 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Action Myoclonus-Renal Failure Syndrome |
Action Myoclonus-Renal Failure Syndrome |
GENOMICS_ENGLAND_DG |
19597094, 21670406, 22032306, 29605618 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Action myoclonus-renal failure syndrome |
Action Myoclonus-Renal Failure Syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Action Myoclonus-Renal Failure Syndrome |
Action Myoclonus-Renal Failure Syndrome |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Adult Neuronal Ceroid Lipofuscinosis |
Neuronal Ceroid Lipofuscinosis |
BEFREE |
25576872 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia |
Anemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anorexia |
Anorexia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
BEFREE |
24188128 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astrocytoma |
Astrocytoma |
BEFREE |
18607068 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ataxia |
Ataxia |
Pubtator |
22050460, 35346091 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
20419844 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
35508649 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
BEFREE |
17485520 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy Dilated |
Dilated cardiomyopathy |
Pubtator |
22032306 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy, Dilated |
Cardiomyopathy |
BEFREE |
22032306 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar atrophy |
Cerebellar atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Charcot-Marie-Tooth Disease |
Charcot-Marie-Tooth Disease |
BEFREE |
18424452 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cirrhosis |
Cirrhosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognition disorder |
Pubtator |
35346091 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congestive heart failure |
Congestive Heart Failure |
BEFREE |
17485520 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness |
Deafness |
Pubtator |
28222800 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Degenerative polyarthritis |
Arthritis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deglutition Disorders |
Dysphagia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dementia |
Dementia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Demyelinating Diseases |
Demyelinating diseases |
Pubtator |
22032306 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
Pubtator |
35346091 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsies Myoclonic |
Myoclonic epilepsy |
Pubtator |
21782476, 21796727, 22050460, 29941711 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
22032306, 22050460 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
22050460 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy, Rolandic |
Epilepsy |
CLINVAR_DG |
29358611 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Essential Tremor |
Essential tremor |
Pubtator |
36183486 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fabry Disease |
Fabry disease |
BEFREE |
31378672 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fabry Disease |
Fabry disease |
Pubtator |
31378672 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial hematuria |
Hematuria |
BEFREE |
29138824 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Focal glomerulosclerosis |
Glomerulosclerosis |
BEFREE |
21429972 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Focal glomerulosclerosis |
Glomerulosclerosis |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Gaucher Disease |
Gaucher Disease |
BEFREE |
19933215, 21796727, 22223122, 24389070, 24485911, 25202012, 26018676 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gaucher Disease |
Gaucher disease |
Pubtator |
21796727, 35346091 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gaucher disease type 1 |
Gaucher Disease |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Gaucher Disease, Type 1 |
Gaucher Disease |
ORPHANET_DG |
21796727 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Generalized seizures |
Seizure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glomerulosclerosis (disorder) |
Glomerulosclerosis |
BEFREE |
18308289 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glomerulosclerosis Focal Segmental |
Focal segmental glomerulosclerosis |
Pubtator |
29138824 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss |
Hearing loss |
Pubtator |
35346091 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart failure |
Heart Failure |
BEFREE |
17485520 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperprolactinemia |
Hyperprolactinemia |
BEFREE |
26682995 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypersplenism |
Hypersplenism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
BEFREE |
17485520 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic pulmonary arterial hypertension |
Pulmonary arterial hypertension |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Diseases |
Kidney Disease |
BEFREE |
21782476 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Diseases |
Kidney disease |
Pubtator |
22050460, 35346091 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Diseases |
Kidney Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Failure |
Kidney Failure |
BEFREE |
19847901, 22032306, 23659519, 29199275, 29605618 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukopenia |
Leukopenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lewy Body Disease |
Lewy Body Disease |
BEFREE |
24973356, 31116970 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lewy Body Disease |
Lewy body disease |
Pubtator |
24973356 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Diseases, Interstitial |
Lung Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
24435746 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myoclonic Epilepsies, Progressive |
Myoclonic epilepsy |
BEFREE |
18424452, 19454373, 19847901, 21670406, 22050460, 23659519, 24389070, 24485911, 27582254, 29605618 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myoclonic Epilepsies, Progressive |
Myoclonic epilepsy |
CLINVAR_DG |
23659519 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myoclonic Epilepsy |
Myoclonic Epilepsy |
BEFREE |
18308289, 21429972, 21796727 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myoclonic Epilepsy |
Myoclonic Epilepsy |
LHGDN |
18308289 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
1374238, 20419844 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrotic Syndrome |
Nephrotic Syndrome |
BEFREE |
18424452, 19454373 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrotic Syndrome |
Nephrotic syndrome |
Pubtator |
18424452 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrotic Syndrome |
Nephrotic Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
25202012 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
BEFREE |
30659447 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
Pubtator |
30659447, 40127054 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteopenia |
Osteopenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosclerosis |
Osteosclerosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancytopenia |
Pancytopenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
BEFREE |
21738487, 22223122, 22465138, 23408458, 23419877, 26094596, 26224037 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Parkinson Disease |
Parkinson disease |
Pubtator |
21738487, 23419877, 30957308, 32139796, 33617695, 34250953, 35346091 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Parkinson Disease |
Parkinson disease |
Pubtator |
33468204 |
Inhibit |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Pendred syndrome |
Pendred syndrome |
Pubtator |
28222800 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pericardial effusion |
Pericardial effusion |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral demyelinating neuropathy |
Demyelinating neuropathy |
BEFREE |
21670406, 22032306 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Peripheral nervous system disease |
Pubtator |
35346091 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polyneuropathies |
Polyneuropathy |
Pubtator |
22032306 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polyneuropathy |
Polyneuropathy |
BEFREE |
22032306 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
24435746 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Proteinuria |
Proteinuria |
Pubtator |
35346091 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary arterial hypertension |
Pulmonary arterial hypertension |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal glomerular disease |
Renal Glomerular Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Insufficiency |
Renal Insufficiency |
BEFREE |
19847901, 22050460, 24485911, 29605618 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Insufficiency |
Renal Insufficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Insufficiency |
Renal Insufficiency |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seizures |
Seizures |
Pubtator |
22032306, 35346091 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
37291150 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tremor |
Tremor |
Pubtator |
35346091 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Unverricht-Lundborg disease |
Myoclonic Epilepsy |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Unverricht-Lundborg Syndrome |
Myoclonic Epilepsy |
BEFREE |
18424452, 19454373, 19847901, 21670406, 22050460, 23659519, 24389070, 27582254, 29605618 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Unverricht-Lundborg Syndrome |
Myoclonic Epilepsy |
ORPHANET_DG |
19847901 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |