| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Absent corpus callosum cataract immunodeficiency |
Vici syndrome |
BEFREE |
27588602, 31444285 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acid cholesteryl ester hydrolase deficiency, type 2 |
Wolman disease |
BEFREE |
28924047 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute pancreatitis |
Pancreatitis |
BEFREE |
28588238 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agenesis of corpus callosum |
Agenesis Of Corpus Callosum |
BEFREE |
11231025 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
22673115, 30918899 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
28222213 |
Stimulate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autosomal dominant Charcot-Marie-Tooth disease type 2B |
Charcot-Marie-Tooth Disease |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
28415719, 32814092 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
37044053 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral Infarction |
Cerebral Infarction |
BEFREE |
28726776 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Charcot-Marie-Tooth Disease |
Charcot-Marie-Tooth Disease |
BEFREE |
10830911, 11003785, 11094113, 12138994, 12545426, 17060578, 18272684, 18501189, 19651702, 19754445, 20028791, 20645406, 23179371, 23188822, 23616551, 24498653, 26362287, 29130394, 30721447, 31386859 View all (5 more) |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) |
Charcot-Marie-Tooth Disease |
BEFREE |
12545426, 15319794, 15455439, 17060578, 18272684, 18501189, 19651702, 19754445, 20645406, 23188822, 23616551, 24521780, 29130394, 30721447 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) |
Charcot-Marie-Tooth Disease |
CLINVAR_DG |
12545426, 22971099, 23188822, 27462242 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) |
Charcot-Marie-Tooth Disease |
UNIPROT_DG |
12545426, 15455439, 17060578, 20028791, 21151572 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) |
Charcot-Marie-Tooth Disease |
GENOMICS_ENGLAND_DG |
15455439, 17060578, 26791407 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) |
Charcot-Marie-Tooth Disease |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chediak-Higashi Syndrome |
Chediak-Higashi Syndrome |
BEFREE |
9126495 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholangiocarcinoma |
Cholangiocarcinoma |
BEFREE |
28946560 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Choroideremia |
Choroideremia |
BEFREE |
15186776 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Q Fever |
Q Fever |
BEFREE |
30616015 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
33357130, 34373442 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital contractural arachnodactyly |
Congenital Contractural Arachnodactyly |
BEFREE |
28946560 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cystinosis |
Cystinosis |
BEFREE |
28465352 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dissection of aorta |
Aortic dissection |
BEFREE |
30816458 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Distal amyotrophy |
Distal amyotrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial Alzheimer Disease (FAD) |
Alzheimer disease |
BEFREE |
26768426 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial partial lipodystrophy |
Partial Lipodystrophy |
BEFREE |
12138994 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Foot osteomyelitis |
Foot osteomyelitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Motor and Sensory Neuropathies |
Hereditary motor and sensory neuropathy |
BEFREE |
10636124, 11231025 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Motor and Sensory-Neuropathy Type II |
Dysautonomia |
BEFREE |
10520946, 9219740, 9409358, 9595994 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hereditary Sensory and Autonomic Neuropathies |
Hereditary sensory and autonomic neuropathy |
BEFREE |
19651702 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Sensory Autonomic Neuropathy, Type 1 |
Hereditary sensory and autonomic neuropathy |
BEFREE |
11003785, 15455439 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Huntington Disease |
Huntington Disease |
BEFREE |
28186670 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypercholesterolemia |
Hypercholesterolemia |
BEFREE |
12054610, 28330474 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
11231025 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intervertebral Disc Degeneration |
Intervertebral Disc Degeneration |
BEFREE |
31079930 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
BEFREE |
30384495 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Mesothelioma of Peritoneum |
Peritoneal mesothelioma |
BEFREE |
17062665 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
24981740 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
LHGDN |
17625594 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
24981740, 27857118, 29027991 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
36871659 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation |
Mental retardation |
BEFREE |
11231025 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild cognitive disorder |
Cognitive disorder |
BEFREE |
20655510, 21669283 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mobius Syndrome |
Mobius Syndrome |
BEFREE |
10830911 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Ischemia |
Myocardial Ischemia |
CTD_human_DG |
16214533 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neoplasms |
Neoplasms |
BEFREE |
22638108, 28826913, 28924047, 31479239 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
28186670 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
24521780 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
29130394 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuropathy |
Neuropathy |
BEFREE |
10636124, 10830911, 12138994, 12545426, 15455439, 15965219, 18272684, 19392663, 20645406, 23176482, 23179371, 30721447 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
36261459 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
BEFREE |
28186670, 29747217 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
Pubtator |
33032646 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral axonal atrophy |
Peripheral axonal atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral motor neuropathy |
Motor nerve neuritis |
BEFREE |
19651702 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
BEFREE |
23176482, 23616551 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Peripheral nervous system disease |
Pubtator |
32280996 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Neuropathy |
Peripheral Neuropathy |
BEFREE |
23176482 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensory neuropathy |
Sensory neuropathy |
BEFREE |
15965219 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensory neuropathy |
Sensory neuropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensory Neuropathy, Hereditary |
Sensory Neuropathy, Hereditary |
BEFREE |
28165391 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Gland Follicular Adenoma |
Thyroid Gland Follicular Adenoma |
BEFREE |
12034881 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Toxic Shock Syndrome |
Toxic Shock Syndrome |
BEFREE |
29046869 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple Negative Breast Neoplasms |
BEFREE |
31662325 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Warburg Sjo Fledelius syndrome |
Warburg Micro Syndrome |
BEFREE |
30721447 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Wolman Disease |
Wolman Disease |
BEFREE |
28924047 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |