| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adenocarcinoma of lung (disorder) |
Lung adenocarcinoma |
BEFREE |
19846932 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agenesis of corpus callosum |
Agenesis Of Corpus Callosum |
BEFREE |
29130579 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agenesis of Corpus Callosum |
Corpus callosum agenesis |
Pubtator |
29130579 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| AL KAISSI SYNDROME |
AL KAISSI SYNDROME |
GENOMICS_ENGLAND_DG |
28886341 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| AL KAISSI SYNDROME |
AL KAISSI SYNDROME |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
36988771 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Biliary Tract Cancer |
Biliary Tract Cancer |
BEFREE |
22209942 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Biliary Tract Neoplasms |
Biliary tract neoplasms |
Pubtator |
22209942 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
10036189, 18242507, 18242510, 19846932, 22158035, 22209942, 28178678, 29512714 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
18242507, 18242510, 19846932, 26209438, 33686962 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Basal Cell |
Basal cell carcinoma |
Pubtator |
33248005 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ciliopathies |
Ciliopathies |
BEFREE |
29130579 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ciliopathies |
Ciliopathy |
Pubtator |
29130579 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly |
Clinodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of fingers |
Clinodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
28663269 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
32345988 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness |
Deafness |
Pubtator |
29130579 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
34369103 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fanconi Anemia |
Fanconi Anemia |
BEFREE |
9628816 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) |
Anemia |
BEFREE |
9628816 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
29845196 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Growth Disorders |
Growth disorder |
Pubtator |
28744006 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
28886341 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
22326270, 23740091 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
12878869 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma Follicular |
Lymphoma |
Pubtator |
11756183 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma, Follicular |
Lymphoma |
BEFREE |
11756183 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
10036189, 18242507, 18242510, 19846932, 22158035, 22209942, 28178678, 29512714 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of gallbladder |
Gallbladder cancer |
BEFREE |
29435072 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
29512714 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
22209942, 28178678, 7882308 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
BEFREE |
10036189 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
GWASDB_DG |
19578364, 21706340, 21926416, 21983787, 24980573 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| melanoma |
Melanoma |
GWASCAT_DG |
19578364, 21983787, 24980573, 28212542 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Melanoma |
Melanoma |
Pubtator |
19578364, 23393597, 33248005 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal carcinoma |
Nasopharyngeal Carcinoma |
GWASDB_DG |
20512145 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal carcinoma |
Nasopharyngeal Carcinoma |
BEFREE |
23740091, 29512714 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
10036189, 18242510, 19236379, 22209942, 28178678, 28663269, 28928881, 29512714, 29845196, 7882308 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posteriorly rotated ear |
Posteriorly Rotated Ear |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
26683928 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of oropharynx |
Oropharyngeal carcinoma |
BEFREE |
26683928 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
28928881, 29512714 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Synophrys |
Synophrys |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Toe Syndactyly Telecanthus and Anogenital and Renal Malformations |
Toe syndactyly-telecanthus-anogenital and renal malformations syndrome |
Pubtator |
27104747, 29130579, 34369103 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
BEFREE |
24218572, 27104747 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |