| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Arthritis Psoriatic |
Psoriatic arthritis |
Pubtator |
12787133 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ataxia Telangiectasia |
Ataxia telangiectasia |
Pubtator |
40118053 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
20696135, 21567072, 28347249, 29434858, 29975932, 31093284, 31644363 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
20196840 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
28347249 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
20196840 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
26339377 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
31132019, 33000203 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Central Nervous System Diseases |
Central nervous system disease |
Pubtator |
18513342 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognition disorder |
Pubtator |
21108402 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
26062578 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
32104694 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital neutropenia |
Congenital Neutropenia |
BEFREE |
17187068, 17917547, 17989524, 18043240, 18055975, 18330843, 18337561, 18513342, 18611981, 19036076, 19120359, 19123440, 19499579, 19524642, 19775295, 19811314, 20128427, 20182745, 21206270, 21796505, 23050867, 23206890, 23975175, 24482108, 25597510, 26637693, 26994629, 27943080, 28681255, 30473482, 30698159, 31321910 View all (17 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital neutropenia |
Congenital Neutropenia |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital neutropenia |
Congenital Neutropenia |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostoses |
Craniosynostosis |
Pubtator |
20220065 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
18055975 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
18055975 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
18055975, 18337561, 18513342, 21108402, 26994629 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Squamous Cell Carcinoma |
Esophageal squamous cell carcinoma |
Pubtator |
23531395 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gaucher Disease |
Gaucher Disease |
BEFREE |
30473482 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
30766479 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
30766479 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
28751207 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
18055975, 18611981 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Retardation Developmental Delay Coarse Facies And Early Death |
Growth retardation, developmental delay, coarse facies, and early death |
Pubtator |
26994629 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Head and Neck Neoplasms |
Head and neck neoplasm |
Pubtator |
35524442 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematological Disease |
Hematological Disease |
BEFREE |
18611981 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemorrhage |
Hemorrhage |
Pubtator |
30040071 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypersensitivity Delayed |
Hypersensitivity |
Pubtator |
18055975, 18337561 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
18055975 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kostmann syndrome |
Kostmann Syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| leukemia |
Leukemia |
BEFREE |
17989524 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia |
Leukemia |
Pubtator |
25298122 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukopenia |
Leukopenia |
BEFREE |
17537008, 20128427, 28169428, 30473482 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lip and Oral Cavity Carcinoma |
Lip and Oral Cavity Carcinoma |
BEFREE |
17545607 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
26339377, 31047882 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
20196840 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
23531395, 32926529 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphedema |
Lymphedema |
Pubtator |
21108402 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphohistiocytosis Hemophagocytic |
Hemophagocytic lymphohistiocytosis |
Pubtator |
28169428 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphohistiocytosis, Hemophagocytic |
Lymphohistiocytosis |
BEFREE |
28169428 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
20696135, 21567072, 28347249, 29434858, 29975932, 31093284, 31644363 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of mouth |
Malignant neoplasm of mouth |
BEFREE |
17545607 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
26062578, 28347249, 28791389 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mantle cell lymphoma |
Mantle Cell Lymphoma |
BEFREE |
25419709 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
12787133 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
12787133 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
20196840 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesothelioma |
Mesothelioma |
Pubtator |
37556141 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myelodysplasia |
Myelodysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYELODYSPLASTIC SYNDROME |
Myelodysplastic Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myeloproliferative Syndrome Transient |
Transient myeloproliferative disorder |
Pubtator |
20220065 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal Carcinoma |
Nasopharyngeal carcinoma |
Pubtator |
35524442 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
22451114, 25419709, 28791389 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nervous System Diseases |
Nervous system disease |
Pubtator |
21108402 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
18330843 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neutropenia |
Neutropenia |
LHGDN |
17187068, 18330843, 18611981 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neutropenia |
Neutropenia |
BEFREE |
17537008, 20128427, 28169428, 30473482 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neutropenia |
Neutropenia |
Pubtator |
20220065, 23454784, 28169428 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neutropenia |
Neutropenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neutropenia Severe Congenital Autosomal Recessive 3 |
Severe congenital neutropenia |
Pubtator |
18055975, 18337561, 18513342, 19036076, 19123440, 19398129, 19775295, 20128427, 20220065, 21108402, 21518791, 21891829, 22624626, 23454784, 23975175, 26637693, 26994629, 28169428, 30040071, 33560392, 36230905, 37993852 View all (7 more) |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Failure, Premature |
Ovarian Failure |
BEFREE |
28681255 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Periodontitis |
Periodontitis |
BEFREE |
21796505 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psoriasis |
Psoriasis |
BEFREE |
12787133 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psoriasis |
Psoriasis |
LHGDN |
12787133, 18399350 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psoriasis |
Psoriasis |
Pubtator |
12787133 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Tract Infections |
Respiratory system infectious disease |
Pubtator |
26994629 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sepsis |
Sepsis |
Pubtator |
37993852 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
22451114, 23531395 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
28791389 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of the hypopharynx |
Hypopharyngeal Carcinoma |
BEFREE |
28791389 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomatitis |
Stomatitis |
Pubtator |
26994629 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Systemic Scleroderma |
Scleroderma |
BEFREE |
16971486 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Systemic Scleroderma |
Scleroderma |
LHGDN |
18399350 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
27618431 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tuberous Sclerosis |
Tuberous sclerosis complex |
Pubtator |
21108402 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
33015771 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Wiskott-Aldrich Syndrome |
Wiskott-Aldrich Syndrome |
BEFREE |
19036076 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |