| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Accessory nipple |
Accessory Nipple |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acquired Kyphoscoliosis |
Acquired Kyphoscoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute Erythroblastic Leukemia |
Erythroblastic Leukemia |
BEFREE |
27108701 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acute monocytic leukemia |
Monocytic Leukemia |
BEFREE |
27108701 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of colon |
Adenocarcinoma Of Colon |
BEFREE |
22118625 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agenesis of Corpus Callosum |
Corpus callosum agenesis |
Pubtator |
39709004 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis |
Amyotrophic Lateral Sclerosis |
BEFREE |
29426953 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Aneurysm, Abdominal |
Aortic Aneurysm |
BEFREE |
31512366 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Apraxia of Phonation |
Apraxia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arnold-Chiari Malformation, Type I |
Arnold-Chiari malformation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
Pubtator |
36653413 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bilateral Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bilateral Wilms Tumor |
Wilms tumor |
CTD_human_DG |
28825729 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast adenocarcinoma |
Breast Adenocarcinoma |
BEFREE |
9360842 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
26148231, 31733123, 9360842 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
11710964, 32576581, 32632453 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Calcinosis |
Calcinosis |
Pubtator |
29713041 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
29620226, 35013116 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
33667716, 34079086, 34299096 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
33741027 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
Pubtator |
39709004 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cardiomyopathy Dilated |
Dilated cardiomyopathy |
Pubtator |
36653413 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Hypoplasia |
Cerebellar Hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of the 5th finger |
Camptodactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic neoplasm |
Pubtator |
35444189 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
22118625, 27259250 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
22118625 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Heart Defects |
Congenital heart defects |
BEFREE |
31634484 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital kyphoscoliosis |
Congenital kyphoscoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
27934879, 31277953 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
36653413 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ductus Arteriosus Patent |
Patent ductus arteriosus |
Pubtator |
39709004 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysgenesis of corpus callosum |
Dysplastic corpus callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dystonia 3, Torsion, X-Linked |
Dystonia |
BEFREE |
9341872 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ebstein Anomaly |
Ebstein anomaly of the tricuspid valve |
BEFREE |
30773818 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ebstein Anomaly |
Ebstein anomaly of the tricuspid valve |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
28334947 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Squamous Cell Carcinoma |
Esophageal squamous cell carcinoma |
Pubtator |
29620226 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Foramen Ovale, Patent |
Patent foramen ovale |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontotemporal dementia |
Frontotemporal dementia |
BEFREE |
29426953 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gallbladder Carcinoma |
Gallbladder cancer |
BEFREE |
31810606 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gallbladder Neoplasms |
Gallbladder neoplasm |
Pubtator |
38341127 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroesophageal reflux disease |
Gastroesophageal Reflux Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
38303029 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gross motor development delay |
Developmental delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Defects Congenital |
Congenital heart defect |
Pubtator |
38110236, 39709004 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Diseases |
Heart disease |
Pubtator |
36653413 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Septal Defects Atrial |
Congenital heart septal defect |
Pubtator |
39709004 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Septal Defects Ventricular |
Congenital heart septal defect |
Pubtator |
39709004 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypersensitivity Delayed |
Hypersensitivity |
Pubtator |
39709004 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertension Pulmonary |
Pulmonary hypertension |
Pubtator |
39542781 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypopituitarism |
Hypopituitarism |
BEFREE |
30773818 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoxia |
Hypoxia |
Pubtator |
34079086 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infantile constant exotropia |
Exotropia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
26571461, 27329731, 30773818 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
27329731, 39709004 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Kidney Diseases |
Kidney disease |
Pubtator |
38110236 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Left Ventricular Hypertrophy |
Left Ventricular Hypertrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Left ventricular noncompaction |
Left ventricular noncompaction |
BEFREE |
30773818 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Left ventricular noncompaction |
Left ventricular noncompaction |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Left ventricular noncompaction cardiomyopathy |
Cardiomyopathy |
BEFREE |
30773818 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia |
Leukemia |
Pubtator |
36875548 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
35803902 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
30377567, 31815296 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
32950106 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly-intellectual disability-left ventricular non compaction syndrome |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrostomia |
Macrostomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
26148231, 31733123, 9360842 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of liver |
Liver Cancer |
BEFREE |
31815296 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
29773901 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
29150959, 30767760 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
LHGDN |
11710964 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
BEFREE |
26148231, 9360842 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
21642354 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
27816966 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
35444189 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation Autosomal Recessive 7 |
Intellectual developmental disorder |
Pubtator |
38110236 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 |
Syndromic Mental Retardation, X-Linked |
ORPHANET_DG |
26571461 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 |
Syndromic Mental Retardation, X-Linked |
GENOMICS_ENGLAND_DG |
27550220 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 |
Syndromic Mental Retardation, X-Linked |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 |
Syndromic Mental Retardation, X-Linked |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesothelioma |
Mesothelioma |
Pubtator |
26254420 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesothelioma Malignant |
Mesothelioma |
Pubtator |
26254420 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microstomia |
Microstomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild Mental Retardation |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MiT family translocation renal cell carcinoma |
Renal Carcinoma |
ORPHANET_DG |
20073616, 9393982 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MiT family translocation renal cell carcinoma |
Renal Carcinoma |
BEFREE |
27934879 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MiT family translocation renal cell carcinoma |
Renal Carcinoma |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neonatal Hypotonia |
Hypotonia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
29150959, 9360842 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephroblastoma |
Nephroblastoma |
CTD_human_DG |
28825729 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
Pubtator |
36416237, 39731187 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-compaction cardiomyopathy |
Noncompaction cardiomyopathy |
BEFREE |
27329731 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary Renal Cell Carcinoma |
Papillary Renal Carcinoma |
BEFREE |
9393982 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Patent ductus arteriosus |
Patent ductus arteriosus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Perivascular Epithelioid Cell Neoplasms |
Perivascular Epithelioid Neoplasms |
BEFREE |
26975036, 28009605 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pick Disease of the Brain |
Pica |
BEFREE |
29426953 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Plagiocephaly |
Plagiocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pseudobulbar Palsy |
Pseudobulbar Palsy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Disease Chronic Obstructive |
Chronic obstructive pulmonary disease |
Pubtator |
34588774 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Relative macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
27934879, 28411178, 31277953 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retrognathia |
Retrognathia |
Pubtator |
38110236 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
BEFREE |
29441870 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Right Ventricular Hypertrophy |
Ventricular hypertrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
Pubtator |
26254420 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
LHGDN |
19165527 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Apnea, Obstructive |
Sleep Apnea |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
29620226 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
29773901 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tachycardia Ventricular |
Ventricular tachycardia |
Pubtator |
36653413 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Cancer Papillary |
Papillary thyroid cancer |
Pubtator |
29713041 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tricuspid Valve Insufficiency |
Tricuspid Valve Insufficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple Negative Breast Neoplasms |
BEFREE |
30725116 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
30725116, 32128390, 32632453, 32724453, 35013116 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
18219107 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
32950106 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
35444189 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Septal Defects |
Ventricular septal defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Wilms Tumor |
Wilms tumor |
Pubtator |
28825729, 40340749 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |