| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute Coronary Syndrome |
Coronary Syndrome |
BEFREE |
30003432 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis 2 Juvenile |
Amyotrophic lateral sclerosis |
Pubtator |
27601211 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anaplastic astrocytoma |
Anaplastic Astrocytoma |
BEFREE |
18093335 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation |
Charcot-Marie-Tooth Disease |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autosomal recessive spastic paraplegia type 57 |
Spastic Paraplegia |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
12680217 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
31754244, 32239802 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
BEFREE |
22240197 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
29180379 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Pancreatic Ductal |
Pancreatic ductal carcinoma |
Pubtator |
32239802 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Charcot-Marie-Tooth Disease |
Charcot-Marie-Tooth Disease |
BEFREE |
25098539, 31111683 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Cholangiocarcinoma |
Cholangiocarcinoma |
Pubtator |
31754244 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Chondrosarcoma |
Chondrosarcoma |
LHGDN |
15188455 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chondrosarcoma |
Chondrosarcoma |
BEFREE |
22581839 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Lymphocytic Leukemia |
Lymphocytic Leukemia |
BEFREE |
10456659 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
19863607 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complicated hereditary spastic paraplegia |
Spastic paraplegia |
BEFREE |
30467354 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis |
Craniosynostosis |
BEFREE |
28337255 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cushing Syndrome |
Cushing syndrome |
Pubtator |
36690805 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
29026155 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Nephropathy |
Diabetic Nephropathy |
BEFREE |
15957132 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Differentiated thyroid carcinoma |
Thyroid Carcinoma |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Distal lower limb amyotrophy |
Distal lower limb amyotrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Extraskeletal Myxoid Chondrosarcoma |
Extraskeletal Myxoid Chondrosarcoma |
BEFREE |
15188455, 28383167 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Extraskeletal Myxoid Chondrosarcoma |
Extraskeletal Myxoid Chondrosarcoma |
ORPHANET_DG |
22581839 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Extraskeletal myxoid chondrosarcoma |
Extraskeletal Myxoid Chondrosarcoma |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Extraskeletal Myxoid Chondrosarcoma |
Extraskeletal Myxoid Chondrosarcoma |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glioblastoma |
Glioblastoma |
BEFREE |
18093335 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
18093335 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
18093335 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematologic Neoplasms |
Hematologic Neoplasms |
BEFREE |
18242762 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Henoch-Schoenlein Purpura |
Henoch-Schonlein Nephritis |
BEFREE |
27492651, 27601211, 28124177, 30157421 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Motor and Sensory Neuropathies |
Hereditary motor and sensory neuropathy |
BEFREE |
22883144, 23553329, 29026155, 31111683, 31449671 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary motor and sensory neuropathy, Okinawa type |
Hereditary Motor And Sensory Neuropathy |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Hereditary Motor and Sensory-Neuropathy Type II |
Dysautonomia |
BEFREE |
25098539 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Sensory and Motor Neuropathy |
Hereditary sensory and motor neuropathy |
Pubtator |
35864671 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperlipidemia |
Hyperlipidemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
BEFREE |
16828231 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Myofibroblastic Tumor |
Inflammatory Myofibroblastic Tumor |
BEFREE |
25612511, 31690781 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
27492651 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ki-1+ Anaplastic Large Cell Lymphoma |
Anaplastic Lymphoma |
BEFREE |
10556217, 11943732 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Laryngeal Neoplasms |
Laryngeal neoplasm |
Pubtator |
20164024 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
BEFREE |
19797732 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lymphoma |
Lymphoma |
Pubtator |
19797732 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant Glioma |
Glioma |
BEFREE |
10766355 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
12680217 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
21809350 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
28393763 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
19863607 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
22250051 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Meningioma |
Meningioma |
Pubtator |
28449809 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metastatic melanoma |
Metastatic Melanoma |
BEFREE |
22250051 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Motor neuron atrophy |
Motor neuron atrophy |
BEFREE |
22883144, 28196470 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myeloproliferative disease |
Myeloproliferative disorder |
BEFREE |
19797732 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
10766355, 20164024, 22250051, 24692687, 25315705, 26503213, 28936555 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nervous System Diseases |
Nervous system disease |
Pubtator |
30157421 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
29026155 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuromuscular Diseases |
Neuromuscular Diseases |
BEFREE |
25725944 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuropathy |
Neuropathy |
GENOMICS_ENGLAND_DG |
27492651 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuropathy |
Neuropathy |
BEFREE |
30157421 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuropathy, hereditary motor and sensory, Okinawa type |
Neuropathy |
CLINVAR_DG |
22883144, 23553329, 24613659, 25725944, 26257172, 28196470 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neuropathy, hereditary motor and sensory, Okinawa type |
Neuropathy |
ORPHANET_DG |
22883144 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neuropathy, hereditary motor and sensory, Okinawa type |
Neuropathy |
UNIPROT_DG |
22883144, 27813252 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neuropathy, hereditary motor and sensory, Okinawa type |
Neuropathy |
GENOMICS_ENGLAND_DG |
27492651, 28124177 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neuropathy, hereditary motor and sensory, Okinawa type |
Neuropathy |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
18242762 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
BEFREE |
27532429 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
20969748 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
36690805 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary thyroid carcinoma |
Papillary thyroid carcinoma |
BEFREE |
19883730, 9169129 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary thyroid carcinoma |
Papillary thyroid carcinoma |
ORPHANET_DG |
9169129, 9172002 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
BEFREE |
30467354 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Neuropathy |
Peripheral Neuropathy |
BEFREE |
30467354 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polyneuropathy, Motor |
Polyneuropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
21809350 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Proximal amyotrophy |
Amyotrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Quadriplegia |
Quadriplegia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
Pubtator |
28510278 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sarcoma, Spindle Cell |
Sarcoma |
BEFREE |
28510278 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorimotor neuropathy |
Sensorimotor neuropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensory neuropathy |
Sensory neuropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sezary Syndrome |
Sezary syndrome |
Pubtator |
28489605 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Soft Tissue Neoplasms |
Soft Tissue Neoplasms |
BEFREE |
19797732 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Paraplegia |
Spastic Paraplegia |
BEFREE |
30467354 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Paraplegia |
Spastic Paraplegia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE |
Spastic Paraplegia |
CLINVAR_DG |
22883144, 23553329, 24613659, 25725944, 28196470 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE |
Spastic Paraplegia |
ORPHANET_DG |
23479643 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE |
Spastic Paraplegia |
UNIPROT_DG |
23479643, 27492651, 27813252, 30237576 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE |
Spastic Paraplegia |
GENOMICS_ENGLAND_DG |
27492651, 28124177 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE |
Spastic Paraplegia |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spastic Paraplegia Hereditary |
Hereditary spastic paraplegia |
Pubtator |
27601211, 30157421 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Paraplegia, Hereditary |
Spastic paraplegia |
BEFREE |
27492651, 28124177, 30157421 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thyroid carcinoma |
Thyroid Carcinoma |
BEFREE |
9169129 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasm |
Thyroid Neoplasm |
BEFREE |
19797732 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasms |
Thyroid cancer |
Pubtator |
19797732, 32737449 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vision Disorders |
Visual disorder |
Pubtator |
27601211 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |