| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Atrophy |
Atrophy |
Pubtator |
26357016 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar atrophy |
Cerebellar atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral atrophy |
Cerebral Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| cervical cancer |
Cervical Cancer |
BEFREE |
11857354 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cervix carcinoma |
Cervix carcinoma |
BEFREE |
11857354 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
18617915 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complete atrioventricular block |
Complete Atrioventricular Block |
BEFREE |
28189396 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pontocerebellar hypoplasia |
Pontoneocerebellar hypoplasia |
GENOMICS_ENGLAND_DG |
24577744 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness |
Deafness |
Pubtator |
39842660 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometriosis |
Endometriosis |
BEFREE |
30643524 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
39842660 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
GENOMICS_ENGLAND_DG |
2920088 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Diseases |
Heart disease |
Pubtator |
39842660 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
2920088 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
32209057 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
12780520, 18511934, 18617915, 18949398, 22040050, 28189396 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Diseases |
Liver disease |
Pubtator |
39842660 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver neoplasms |
Liver neoplasms |
BEFREE |
18949398, 28189396 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of liver |
Liver Cancer |
BEFREE |
22040050 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
GWASDB_DG |
23535732 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
22040050 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of cervix |
Cervical Tumor |
BEFREE |
11857354 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
Pubtator |
39842660 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Microcephaly with Mental Retardation and Digital Anomalies |
Microcephaly |
Pubtator |
32209057 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Atrophy Spinal |
Spinal muscular atrophy |
Pubtator |
26357016 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neonatal Hypotonia |
Hypotonia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
11606366, 11857354, 18511934, 18617915, 18949398, 22040050, 28189396 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nervous System Diseases |
Nervous system disease |
Pubtator |
39842660 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oligoarticular Juvenile Idiopathic Arthritis |
Oligoarticular Arthritis |
BEFREE |
28969936 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis |
Osteoporosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| PEHO syndrome |
PEHO Syndrome |
BEFREE |
30100179 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| PONTOCEREBELLAR HYPOPLASIA, TYPE 2E |
Pontoneocerebellar hypoplasia |
GENOMICS_ENGLAND_DG |
24577744, 2920088, 30100179 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PONTOCEREBELLAR HYPOPLASIA, TYPE 2E |
Pontoneocerebellar hypoplasia |
UNIPROT_DG |
24577744 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PONTOCEREBELLAR HYPOPLASIA, TYPE 2E |
Pontoneocerebellar hypoplasia |
CLINVAR_DG |
28567303 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PONTOCEREBELLAR HYPOPLASIA, TYPE 2E |
Pontoneocerebellar hypoplasia |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Progressive cerebello-cerebral atrophy |
Progressive Cerebello-Cerebral Atrophy |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
GWASCAT_DG |
23535732, 29892016 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
32343676, 34445492, 36443337 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
Pubtator |
36232302 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Quadriplegia |
Spastic Quadriplegia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |