| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adenocarcinoma |
Adenocarcinoma |
BEFREE |
21901247, 29577671 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenoid Cystic Carcinoma |
Adenocarcinoma |
BEFREE |
19841262, 20452298, 20702610, 21164292, 21572406, 21618541, 21901247, 22015727, 22505352, 23222122, 23398044, 23725736, 24732452, 25217885, 25990369, 26095796, 26309189, 26631609, 26851182, 27491809, 27662035, 28139061, 28498281, 28594149, 29076877, 29149504, 29410490, 29619555, 30269389, 31028361, 31189999, 31301736, 31426421 View all (18 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenoid Cystic Carcinoma |
Adenocarcinoma |
CTD_human_DG |
23685749 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenoma |
Adenoma |
BEFREE |
9484777 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenoma, Basal Cell |
Adenoma |
BEFREE |
31189999 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agenesis of corpus callosum |
Agenesis Of Corpus Callosum |
BEFREE |
17353270, 19841262, 20702610, 21618541, 21709671, 21785271, 21901247, 21976542, 22505352, 23685749, 23725736, 23825564, 24302647, 24893972, 25217885, 25587024, 26076064, 26309189, 26359351, 26631070, 26631609, 26862087, 27533466, 27859477, 28035703, 28498281, 28500913, 28719465, 28954282, 29141398, 29243184, 29555661, 29570128, 30527239, 30896785, 31301736 View all (21 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aicardi Syndrome |
Aicardi syndrome |
Pubtator |
20702610, 23825564, 24302647, 24893972, 27859477, 28719465 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
24067654 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Amyloidosis |
Amyloidosis |
BEFREE |
27430330, 31771065 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Aneurysm, Abdominal |
Aortic Aneurysm |
BEFREE |
29087237 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aplasia Cutis Congenita |
Aplasia Cutis Congenita |
BEFREE |
19841262, 20702610, 21618541, 21709671, 21785271, 21901247, 21976542, 22505352, 23685749, 23725736, 23825564, 24302647, 24893972, 25217885, 25587024, 26076064, 26309189, 26359351, 26631070, 26631609, 26862087, 27533466, 27859477, 28035703, 28498281, 28500913, 28719465, 28954282, 29141398, 29243184, 29555661, 29570128, 30527239, 30896785, 31301736 View all (20 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astrocytoma |
Astrocytoma |
Pubtator |
23161775, 37155843 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astrocytoma |
Astrocytoma |
BEFREE |
31760595 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorders |
Autism Spectrum Disorder |
BEFREE |
22180456 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Benign Prostatic Hyperplasia |
Benign Prostatic Hyperplasia |
BEFREE |
26677878 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharophimosis |
Blepharophimosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
29180470 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
19841262, 21925980, 29180470, 33751828, 40009831 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
36369883 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
BEFREE |
19841262 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Adenoid Cystic |
Adenoid cystic carcinoma |
Pubtator |
19841262, 20702610, 21572406, 21785271, 21976542, 23398044, 23778141, 25951887, 25963073, 26095796, 26309189, 26631609, 26862087, 26969893, 27491809, 28210977, 28719465, 29141398, 29410490, 29467480, 30926674, 31189999, 31301736, 32650834, 33878706, 36879115, 37947157 View all (12 more) |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Basal Cell |
Basal cell carcinoma |
Pubtator |
31189999 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
36369883 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
27555542 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Squamous Cell |
Squamous cell carcinoma |
Pubtator |
11346465 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Basal Cell |
Carcinoma |
BEFREE |
31189999 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
31754405 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
31754405, 36006421, 37491379 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Abnormalities |
Congenital abnormalities |
Pubtator |
36321570 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of lung |
Pulmonary hypoplasia |
BEFREE |
17353270 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dementia |
Dementia |
BEFREE |
22170863 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Diabetic Nephropathy |
Diabetic Nephropathy |
BEFREE |
29070574 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Down Syndrome |
Down Syndrome |
BEFREE |
20847428, 31479861 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eccrine dermal cylindroma |
Cylindromatosis |
BEFREE |
21618541 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epithelioma |
Epithelioma |
BEFREE |
21572406 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Squamous Cell Carcinoma |
Esophageal squamous cell carcinoma |
Pubtator |
29577671 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial Alzheimer Disease (FAD) |
Alzheimer disease |
BEFREE |
11557046 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibrocystic Breast Disease |
Breast fibrocystic disease |
Pubtator |
27491809 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Giant Cell Tumor of Bone |
Giant cell tumor of bone |
BEFREE |
23172052 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Giant Cell Tumor of Bone |
Giant cell tumor of bone |
Pubtator |
25764026 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
31262726, 37155843 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
31760595 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
31760595 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
31807116 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
GENOMICS_ENGLAND_DG |
30388402 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Head and Neck Neoplasms |
Head and neck neoplasm |
Pubtator |
25963073 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Breast and Ovarian Cancer Syndrome |
Hereditary breast and ovarian cancer syndrome |
Pubtator |
21785271, 29149504 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
BEFREE |
17353270 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperparathyroidism Secondary |
Hyperparathyroidism |
Pubtator |
33991027 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
BEFREE |
23948903 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
30388402 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
30388402 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
36321570 |
Associate |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Keratoconus |
Keratoconus |
Pubtator |
26040312, 35305607 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid |
Myeloid leukemia |
Pubtator |
24067654 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipoma |
Lipoma |
BEFREE |
16133369, 18663748, 29025583 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipoma |
Lipoma |
LHGDN |
18663748 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipoma |
Lipoma |
Pubtator |
36309352 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipomatosis, Multiple |
Lipomatosis |
BEFREE |
16133369, 18663748, 29025583 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Failure |
Liver failure |
Pubtator |
36369883 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
27555542 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
29577671 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly |
Macrocephaly |
BEFREE |
30388402 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Macrocephaly |
Macrocephaly |
GENOMICS_ENGLAND_DG |
30388402 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT |
Macrocephaly, With Impaired Intellectual Development |
CLINVAR_DG |
30388402 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT |
Macrocephaly, With Impaired Intellectual Development |
GENOMICS_ENGLAND_DG |
30388402 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT |
Macrocephaly, With Impaired Intellectual Development |
UNIPROT_DG |
30388402 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
29180470 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
27555542 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
19337254 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
23778141, 27491809, 29180470, 29555661, 31301736, 31754405 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mucoepidermoid Carcinoma |
Mucoepidermoid Carcinoma |
BEFREE |
28930752, 29555661 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myeloproliferative Disorders |
Myeloproliferative disorder |
Pubtator |
12730106 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
16133369, 16461008, 19837271, 20702610, 21164292, 21572406, 21901247, 21976542, 23725736, 25587024, 25963073, 26319758, 26631609, 26862087, 27419866, 29467480, 29555661, 30896785, 31606723, 31760595, 31807116, 9484777 View all (7 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
10318786 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurofibromatoses |
Neurofibromatosis |
BEFREE |
28644838 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurofibromatosis 1 |
Neurofibromatosis |
BEFREE |
28644838 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
BEFREE |
26084801 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
GWASCAT_DG |
26084801 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
Pubtator |
31522615 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
32706064 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papilloma |
Papilloma |
BEFREE |
29533280 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
Pubtator |
32781104, 34783303 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycythemia Vera |
Polycythemia Vera |
BEFREE |
20601445 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycythemia Vera |
Polycythemia vera |
Pubtator |
20601445 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Hyperplasia |
Prostatic Hyperplasia |
BEFREE |
26677878 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
32692871 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Salivary Gland Neoplasms |
Salivary gland neoplasms |
Pubtator |
21572406, 34176176 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
GWASCAT_DG |
31374203 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Schwannomatosis |
Schwannomatosis |
BEFREE |
24443315 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Small cell carcinoma of lung |
Lung carcinoma |
BEFREE |
27419866, 27613844 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Small Cell Lung Carcinoma |
Small cell lung carcinoma |
Pubtator |
27419866 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
29577671 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
11346465, 29577671 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
34805417, 39376501 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
33576439 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple Negative Breast Neoplasms |
BEFREE |
18314908, 21925980, 26095796, 29149504 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
21925980 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
26095796, 27491809 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |