| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute monocytic leukemia |
Monocytic Leukemia |
BEFREE |
28063196 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute Promyelocytic Leukemia |
Promyelocytic Leukemia |
BEFREE |
24515802 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenoid Cystic Carcinoma |
Adenocarcinoma |
CTD_human_DG |
23685749 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Acute Myeloblastic Leukemia |
Myeloblastic Leukemia |
BEFREE |
21989985 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agenesis of Corpus Callosum |
Corpus callosum agenesis |
Pubtator |
34400773 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia Aplastic |
Aplastic anemia |
Pubtator |
26132940, 36499545 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aplastic Anemia |
Aplastic anemia |
BEFREE |
27121470 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astrocytoma |
Astrocytoma |
Pubtator |
30051528 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic behavior |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune Diseases |
BEFREE |
27121470 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bilateral Wilms Tumor |
Wilms tumor |
CTD_human_DG |
28825729 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Cancer, Familial |
Breast Cancer |
BEFREE |
17697391 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
17697391 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
17697391 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
Pubtator |
30051528, 34302054 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
26879601 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Central Nervous System Neoplasms |
Central nervous system neoplasm |
Pubtator |
38216991 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dental Caries |
Dental caries |
Pubtator |
23470693 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
33810051, 34400773 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ear Diseases |
Ear disease |
Pubtator |
33810051 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exotropia |
Exotropia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Stromal Tumors |
Gastrointestinal stromal tumor |
Pubtator |
36639698 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Heart Septal Defects |
Congenital heart septal defect |
Pubtator |
34400773 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
30941876 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
33810051 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Kidney Neoplasms |
Kidney neoplasm |
Pubtator |
32628469 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leiomyosarcoma |
Leiomyosarcoma |
Pubtator |
34302054 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia |
Leukemia |
Pubtator |
25326804, 28982308, 35015684 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
BEFREE |
28982308 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
21989985, 24047651, 27983727, 28982308, 30480765, 33433047, 36370049, 37088137 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
21989985, 24047651, 24515802, 28063196, 30083851 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
24515802, 26879601, 29679906 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
Pubtator |
25326804 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
17697391 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
17697391, 24515802, 28427458, 30941876 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
LHGDN |
17697391 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
29605720 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYELODYSPLASTIC SYNDROME |
Myelodysplastic Syndrome |
BEFREE |
24047651, 24515802, 27121470, 30083851 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myelodysplastic Syndromes |
Myelodysplastic syndrome |
Pubtator |
24047651 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
21989985, 24896186, 27537276, 29679906 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephroblastoma |
Nephroblastoma |
CTD_human_DG |
28825729 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neural Tube Defects |
Neural tube defect |
Pubtator |
24047651 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-specific syndromic intellectual disability |
Syndromic Mental Retardation |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Perisylvian syndrome |
Perisylvian syndrome |
Pubtator |
34400773 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycythemia Vera |
Polycythemia vera |
Pubtator |
28427458 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polymicrogyria |
Polymicrogyria |
Pubtator |
34400773 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
17697391 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinoblastoma |
Retinoblastoma |
BEFREE |
24515802 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
Pubtator |
34232599, 34302054 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sarcoma Endometrial Stromal |
Endometrial stromal sarcoma |
Pubtator |
34302054 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stereotyped Behavior |
Stereotyped Behavior |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Cancer Papillary |
Papillary thyroid cancer |
Pubtator |
32606114 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Wilms Tumor |
Wilms tumor |
Pubtator |
28825729 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |