| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute monocytic leukemia |
Monocytic Leukemia |
BEFREE |
26265695 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of lung (disorder) |
Lung adenocarcinoma |
BEFREE |
29667179 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Malignant Peripheral Nerve Sheath Tumor |
Malignant Peripheral Nerve Sheath Tumor |
BEFREE |
28549031 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alveolar rhabdomyosarcoma |
Alveolar Rhabdomyosarcoma |
BEFREE |
27760049 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ambiguous Genitalia |
Ambiguous Genitalia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Apraxia of Phonation |
Apraxia |
BEFREE |
31737996 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Apraxias |
Apraxia |
Pubtator |
31949314 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arnold Chiari Malformation |
Arnold-Chiari malformation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arrhythmias Cardiac |
Cardiac arrhythmias |
Pubtator |
34109749 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arterial Occlusive Diseases |
Arterial occlusive disease |
Pubtator |
31474762 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astigmatism |
Astigmatism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorders |
Autism Spectrum Disorder |
BEFREE |
31146125 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
CTD_human_DG |
30559488 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
31388190 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
27779108 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
33741961, 38281186 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
30043858, 32070428 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
38179759 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinosarcoma |
Carcinoma |
Pubtator |
28940304 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Child Development Deviations |
Development Disorder |
CTD_human_DG |
30559488 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Child Development Disorders, Specific |
Development Disorder |
CTD_human_DG |
30559488 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Childhood Malignant Peripheral Nerve Sheath Tumor |
Malignant Peripheral Nerve Sheath Tumor |
BEFREE |
28549031 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
28486105 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
23708667, 31438571, 33994851 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Abnormalities |
Congenital abnormalities |
Pubtator |
31388190 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Connective Tissue Diseases |
Connective Tissue Disease |
BEFREE |
30616054 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary heart disease |
Coronary Heart Disease |
BEFREE |
29722858 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermatomyositis |
Dermatomyositis |
Pubtator |
9790534 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Development Disorder |
CTD_human_DG |
30559488 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Developmental Disabilities |
Developmental disability |
Pubtator |
31238879, 31388190, 31474762 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
35521759 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
20693977, 22302795, 24348274, 25849321, 26116663, 27418512, 27479907, 27616479, 28135719 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Carcinoma |
Endometrial carcinoma |
CTD_human_DG |
23104009 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Carcinoma |
Endometrial carcinoma |
BEFREE |
27997699, 29844320, 29888111 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Neoplasms |
Endometrial Neoplasms |
CTD_human_DG |
23104009 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epilepsy |
Epilepsy |
Pubtator |
34109749 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy Idiopathic Generalized |
Epilepsy |
Pubtator |
34109749 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Stromal Tumors |
Gastrointestinal stromal tumor |
Pubtator |
28130400 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
24440720, 30872624 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
30872624 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
24440720, 30872624 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
29272522 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
29272522 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss |
Hearing loss |
Pubtator |
31388190 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Defects Congenital |
Congenital heart defect |
Pubtator |
31474762, 31941532, 32341405 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Diseases |
Heart disease |
Pubtator |
31949314 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadism |
Hypogonadism |
Pubtator |
31388190 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic Inflammatory Myopathies |
Inflammatory Myopathy |
BEFREE |
30938432 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
31146125, 31737996 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
31474762, 31949314 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Learning Disabilities |
Learning disorders |
Pubtator |
32341405 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia |
Leukemia |
Pubtator |
29599201, 35839448 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
29253671, 29599201 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
26265695 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
26095183 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
30008631 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
31438571, 35821222 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
Pubtator |
30043858 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly |
Macrocephaly |
BEFREE |
31737996 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
27779108, 30967373 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of endometrium |
Endometrial Cancer |
BEFREE |
27997699, 29888111 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of liver |
Liver Cancer |
BEFREE |
26095183 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
25407497, 28842166, 29113150, 29844320, 29888111, 29888431, 30872624 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Peripheral Nerve Sheath Tumor |
Malignant Peripheral Nerve Sheath Tumor |
BEFREE |
28549031 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
33741961 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moyamoya disease 1 |
Moyamoya disease |
Pubtator |
31474762 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple congenital anomalies |
Multiple Congenital Anomalies |
CLINVAR_DG |
20693977, 22302795, 24348274, 25849321, 26116663, 27418512, 27479907, 27616479, 28135719 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
26265695, 27779108, 28486105, 28842166, 31438571 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
BEFREE |
31388190 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
Pubtator |
36937804 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Diseases |
Ovarian diseases |
Pubtator |
27791010 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
25737278, 27791010, 34161330 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Penis agenesis |
Penis Agenesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor B-cell lymphoblastic leukemia |
Lymphoblastic Leukemia |
BEFREE |
31085655, 31123064 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
36095024 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Disease Chronic Obstructive |
Chronic obstructive pulmonary disease |
Pubtator |
36937804 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rectal Carcinoma |
Rectal Carcinoma |
BEFREE |
31438571 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Insufficiency |
Renal Insufficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rett Syndrome |
Rett syndrome |
Pubtator |
37408271 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhabdomyosarcoma |
Rhabdomyosarcoma |
Pubtator |
32744500 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
CTD_human_DG |
21743468 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SIFRIM-HITZ-WEISS SYNDROME |
SIFRIM-HITZ-WEISS SYNDROME |
UNIPROT_DG |
27479907, 27616479 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| SIFRIM-HITZ-WEISS SYNDROME |
SIFRIM-HITZ-WEISS SYNDROME |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| SIFRIM-HITZ-WEISS SYNDROME |
SIFRIM-HITZ-WEISS SYNDROME |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Small cell carcinoma of lung |
Lung carcinoma |
BEFREE |
29888431 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
33315534, 36362284 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
30043858, 35821222 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Tetralogy of Fallot |
Tetralogy of Fallot |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thyroid Cancer Papillary |
Papillary thyroid cancer |
Pubtator |
33419089 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Trigonocephaly |
Trigonocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple Negative Breast Neoplasms |
BEFREE |
29305962, 31639396 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
37970920 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Remodeling |
Ventricular remodeling |
Pubtator |
31949314 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vesico-Ureteral Reflux |
Vesicoureteral Reflux |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |