| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| 2p21 microdeletion syndrome |
2p21 microdeletion syndrome |
ORPHANET_DG |
11524703 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| 2p21 microdeletion syndrome |
2p21 microdeletion syndrome |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| 2p21 microdeletion syndrome without cystinuria |
2p21 microdeletion syndrome without cystinuria |
ORPHANET_DG |
23794250 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| 2p21 microdeletion syndrome without cystinuria |
2p21 microdeletion syndrome without cystinuria |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma |
Adenocarcinoma |
BEFREE |
8169749 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of colon |
Adenocarcinoma Of Colon |
BEFREE |
26824338 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenoid Cystic Carcinoma |
Adenocarcinoma |
BEFREE |
9374166 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Learning Disorders |
Learning Disorders |
CTD_human_DG |
26247364 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult onset autosomal dominant leukodystrophy |
Leukodystrophy |
BEFREE |
19725832 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia, Sickle Cell |
Anemia |
BEFREE |
14755370 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis |
Arthritis |
BEFREE |
29609944 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atypical hypotonia-cystinuria syndrome |
Hypotonia-Cystinuria Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Bipolar Disorder |
Bipolar Disorder |
BEFREE |
11033343 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Bipolar Disorder |
Bipolar Disorder |
GWASDB_DG |
21738484 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Bladder Neoplasm |
Bladder Neoplasm |
BEFREE |
8758907 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
11964043, 1690316, 1793731, 19787228, 9284823 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
BEFREE |
19787228, 8169749 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of bladder |
Bladder carcinoma |
BEFREE |
8758907 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Ovarian Epithelial |
Ovarian Epithelial carcinoma |
BEFREE |
26761817 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| CATARACT, MARNER TYPE |
Cataract |
BEFREE |
10082134, 1490146, 24509172, 30168728, 31738061, 7955125 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Centronuclear myopathy |
Centronuclear Myopathy |
BEFREE |
7969799 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Child Development Deviations |
Development Disorder |
CTD_human_DG |
26247364 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Child Development Disorders, Specific |
Development Disorder |
CTD_human_DG |
26247364 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic schizophrenia |
Schizophrenia |
BEFREE |
10696830 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Class III malocclusion |
Malocclusion |
BEFREE |
29970262 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
17699774, 8396566 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
8169749 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis |
Craniosynostosis |
BEFREE |
28921242 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Crohn Disease |
Crohn Disease |
BEFREE |
19212205 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cystinuria |
Cystinuria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Degenerative polyarthritis |
Arthritis |
BEFREE |
28974401 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Delirium |
Delirium |
BEFREE |
27108353, 27251666, 28039082, 28173895, 28903799, 28947274, 29103316, 29171992, 29370764, 30506177, 30664239, 30804030, 30899957, 30920404, 31127777, 31467255, 31605539, 31695347 View all (3 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
BEFREE |
15820228 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Coordination Disorder |
Developmental dyspraxia |
CTD_human_DG |
26247364 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Developmental Disabilities |
Development Disorder |
CTD_human_DG |
26247364 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ectodermal Dysplasia |
Ectodermal Dysplasia |
BEFREE |
30192352 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Carcinoma |
Endometrial carcinoma |
BEFREE |
30851892 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gallbladder Carcinoma |
Gallbladder cancer |
BEFREE |
22200632 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Stromal Tumors |
Gastrointestinal stromal tumor |
BEFREE |
31331555 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
10697494, 29228563 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
10697494, 29228563 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
16322240 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary pancreatitis |
Hereditary Pancreatitis |
BEFREE |
15668900 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Holoprosencephaly |
Holoprosencephaly |
BEFREE |
12820004 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoglycemia |
Hypoglycemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadism |
Hypogonadism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
BEFREE |
3297787 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypotonia-Cystinuria Syndrome |
Hypotonia-Cystinuria Syndrome |
BEFREE |
18781961, 28726805 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypotonia-Cystinuria Syndrome |
Hypotonia-Cystinuria Syndrome |
CTD_human_DG |
26247364 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ICHTHYOSIS PREMATURITY SYNDROME |
ICHTHYOSIS PREMATURITY SYNDROME |
BEFREE |
29605190 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
BEFREE |
11033343 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Learning Disabilities |
Learning Disorders |
CTD_human_DG |
26247364 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Learning Disorders |
Learning Disorders |
CTD_human_DG |
26247364 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Learning Disturbance |
Learning Disorders |
CTD_human_DG |
26247364 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lissencephaly |
Lissencephaly |
BEFREE |
12820004 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Luft Disease |
Luft Disease |
CTD_human_DG |
26247364 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus, Systemic |
Lupus Erythematosus |
BEFREE |
31820195 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
BEFREE |
27599538 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma, Non-Hodgkin |
Non-Hodgkin lymphoma |
BEFREE |
26341817, 27840970, 28395594 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma, Non-Hodgkin, Familial |
Lymphoma |
BEFREE |
26341817, 28395594 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
11313949, 11964043, 1793731, 19787228, 9704623 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of endometrium |
Endometrial Cancer |
BEFREE |
30851892 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of gallbladder |
Gallbladder cancer |
BEFREE |
22200632 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of kidney |
Kidney Cancer |
BEFREE |
21880579 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of ovary |
Ovarian cancer |
BEFREE |
26761817 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
10597733, 7796410, 8758907 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of skin |
Skin cancer |
BEFREE |
15278364 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
24796534 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of urinary bladder |
Urinary bladder cancer |
BEFREE |
8758907 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
1706237, 21880579, 22889191, 30552257, 30834992, 30935516, 31331555 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
17699774, 8396566 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mantle cell lymphoma |
Mantle Cell Lymphoma |
BEFREE |
28533307 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MASA SYNDROME (disorder) |
MASA syndrome |
BEFREE |
7562969 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Megaconial Myopathies |
Megaconial Myopathies |
CTD_human_DG |
26247364 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
11498790, 12823444, 1469290, 29763480, 31826047, 9284823 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Meningioma |
Meningioma |
BEFREE |
15668900 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Depression |
Mental Depression |
BEFREE |
15820228 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesothelioma |
Mesothelioma |
BEFREE |
7955125 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metastatic melanoma |
Metastatic Melanoma |
BEFREE |
11255016 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Myopathies |
Mitochondrial myopathy |
CTD_human_DG |
26247364 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Moderate intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mood Disorders |
Mood Disorder |
BEFREE |
10696830 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Motor Skills Disorders |
Motor Skills Disorders |
CTD_human_DG |
26247364 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Multiple Myeloma |
Multiple myeloma |
BEFREE |
14633719, 1706237, 23760401, 24037419, 26453405, 26710889, 27189701, 27258734, 28238095, 31540771, 9436925 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple Sclerosis |
BEFREE |
24430173 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
10597733, 10697494, 11313949, 11964043, 1706237, 17546603, 17952127, 19787228, 20421925, 21602664, 22889191, 23000338, 23527098, 24509172, 24703465, 27498840, 28634389, 28838999, 29133037, 29228563, 29763480, 30170067, 7542254, 7796410, 8188295, 8758907, 9284823, 9374166 View all (13 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrolithiasis |
Nephrolithiasis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
10495434, 24509172, 2471777, 27498840 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ovarian neoplasm |
Ovarian neoplasm |
BEFREE |
26761817 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paraganglioma |
Paraganglioma |
BEFREE |
31442521 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pleoconial Myopathies |
Pleoconial myopathy |
CTD_human_DG |
26247364 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
10597733, 7796410, 8758907 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal carcinoma |
Renal Carcinoma |
BEFREE |
10495434, 21880579 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
10495434 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
BEFREE |
31820195 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
BEFREE |
31331555 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
BEFREE |
10696830, 11033343, 11681838, 20157312, 9098580 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Apnea, Obstructive |
Sleep Apnea |
BEFREE |
31331855 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Slipped Capital Femoral Epiphyses |
Slipped Capital Femoral Epiphyses |
BEFREE |
29426010 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Small cell carcinoma of lung |
Lung carcinoma |
BEFREE |
20421925, 8075973 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Paraplegia |
Spastic Paraplegia |
BEFREE |
7562969 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Specific language impairment |
Specific Language Impairment |
BEFREE |
20157312 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
31517842 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
24796534 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Testicular Germ Cell Tumor |
Testicular Germ Cell Tumor |
BEFREE |
28838999 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trigeminal Neuralgia |
Trigeminal neuralgia |
BEFREE |
31560737 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ulcerative Colitis |
Ulcerative colitis |
BEFREE |
19212205 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) |
Catecholaminergic polymorphic ventricular tachycardia |
BEFREE |
29720499 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| X-linked hydrocephalus syndrome |
Hydrocephalus Syndrome, X-Linked |
BEFREE |
7562969, 9195224 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |