| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute Promyelocytic Leukemia |
Promyelocytic Leukemia |
BEFREE |
23518351 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma |
Adenocarcinoma |
BEFREE |
27689328 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Acute Lymphocytic Leukemia |
Lymphocytic Leukemia |
BEFREE |
29330049 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety Disorder |
BEFREE |
28485378 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety Disorders |
Anxiety Disorder |
BEFREE |
28485378 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Valve Insufficiency |
Aortic Valve Insufficiency |
BEFREE |
27689328 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
BEFREE |
18498374 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
LHGDN |
18498374 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
27183383, 27899639 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
40427554 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
30180906, 32441881 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
25065740 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
37531433 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cleft Lip |
Cleft lip |
Pubtator |
17594395, 19843542, 20067792 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cleft Palate |
Cleft palate |
Pubtator |
19843542 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cleft palate and bilateral cleft lip |
Cleft Palate And Bilateral Cleft Lip |
BEFREE |
19843542 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognitive disorder |
BEFREE |
29317619 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
28765946 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
28765946, 39810713 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Abnormalities |
Congenital abnormalities |
Pubtator |
19843542 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
BEFREE |
28485378 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
16199551, 17594395, 17661819, 18498374, 19843542, 20622853, 25167861 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
BEFREE |
19843542 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Breast and Ovarian Cancer Syndrome |
Hereditary breast and ovarian cancer syndrome |
Pubtator |
27183383 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
BEFREE |
28485378, 29317619 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
16199551, 17661819, 19843542, 23092983, 31691806 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
17594395, 19843542, 20067792, 23092983, 31906484 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| leukemia |
Leukemia |
BEFREE |
25065740 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
30180906, 30404655, 30764899, 31666106 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
28592245, 38165927 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
28765946 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
27183383, 27899639 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
25065740 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
22120715, 22867098, 27689328 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
28401003 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
22120715, 25065740, 28430394, 28734980, 28765946, 30764899 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Depression |
Mental Depression |
BEFREE |
28485378 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental disorders |
Mental Disorders |
GWASDB_DG |
21057379 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental disorders |
Mental Disorders |
GWASCAT_DG |
21057379 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation |
Mental retardation |
BEFREE |
16199551, 17661819, 19843542 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation |
Mental retardation |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation, X-Linked |
Mental retardation |
BEFREE |
16199551, 17594395, 17661819, 20101266, 20346720, 20548336, 20622853, 25853498, 27183383, 28126843 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation, X-Linked |
Mental retardation |
LHGDN |
16199551, 17661819, 18498374 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild Mental Retardation |
Mental retardation |
BEFREE |
25258334 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild Mental Retardation |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple congenital anomalies |
Multiple Congenital Anomalies |
CLINVAR_DG |
16199551, 17594395, 17661819, 18498374, 19843542, 20622853, 25167861 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
28401003, 29330049, 30180906, 30764899 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
BEFREE |
26077434, 31691806 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
25065740 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polydactyly preaxial type 1 |
Polydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
22120715, 22867098, 27689328 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psychotic Disorders |
Psychosis |
GWASDB_DG |
21057379 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psychotic Disorders |
Psychosis |
GWASCAT_DG |
21057379 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Siderius X-linked mental retardation syndrome |
Syndromic Mental Retardation, X-Linked |
CLINGEN_DG |
16199551, 17594395, 17661819, 20346720, 20548336, 20622853, 25167861, 26633542, 29276005, 29317619 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Siderius X-linked mental retardation syndrome |
Syndromic Mental Retardation, X-Linked |
UNIPROT_DG |
16199551, 17661819, 20101266, 20208542, 20346720, 20421419, 20548336, 20622853, 20622854 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Siderius X-linked mental retardation syndrome |
Syndromic Mental Retardation, X-Linked |
ORPHANET_DG |
17661819 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Siderius X-linked mental retardation syndrome |
Syndromic Mental Retardation, X-Linked |
GENOMICS_ENGLAND_DG |
17661819 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Siderius X-linked mental retardation syndrome |
Syndromic Mental Retardation, X-Linked |
BEFREE |
18498374 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Siderius X-linked mental retardation syndrome |
Syndromic Mental Retardation, X-Linked |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Siderius X-linked mental retardation syndrome |
Syndromic Mental Retardation, X-Linked |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
24146981, 25065740 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
28401003 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
33111613 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Synophrys |
Synophrys |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uranostaphyloschisis |
Uranostaphyloschisis |
BEFREE |
25258334 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| X-linked intellectual disability, Siderius type |
Mental Retardation, X-Linked |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |