| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
26417591 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic behavior |
Autism |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
BEFREE |
30449657 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Cancer, Familial |
Breast Cancer |
BEFREE |
30303537 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
GWASCAT_DG |
29059683 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
30303537, 33499882 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
26178433 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Diseases |
Cerebellar diseases |
Pubtator |
38003592 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Hypoplasia |
Cerebellar Hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognition disorder |
Pubtator |
38003592 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cough |
Cough |
Pubtator |
28084903 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Development Disorder |
BEFREE |
31721002 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
38003592 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
BEFREE |
31721002 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastritis |
Gastritis |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroparesis |
Gastroparesis |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
31721002 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly |
Macrocephaly |
BEFREE |
30449657 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
26178433 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
30033091, 30107173 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS |
Mega corpus callosum syndrome with cerebellar hyoplasia and cortical malformations |
GENOMICS_ENGLAND_DG |
27479843 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS |
Mega corpus callosum syndrome with cerebellar hyoplasia and cortical malformations |
BEFREE |
30449657 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS |
Mega corpus callosum syndrome with cerebellar hyoplasia and cortical malformations |
UNIPROT_DG |
30449657 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS |
Mega corpus callosum syndrome with cerebellar hyoplasia and cortical malformations |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metastatic melanoma |
Metastatic Melanoma |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I |
Microcephalic osteodysplastic primordial dwarfism |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
BEFREE |
30449657 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moderate intellectual disability |
Mental retardation |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myotonic Dystrophy |
Myotonic dystrophy |
Pubtator |
34371182 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
30033091, 31449053 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Serous Adenocarcinoma |
Ovarian serous adenocarcinoma |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posteriorly rotated ear |
Posteriorly Rotated Ear |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
39318189 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Roifman syndrome |
Roifman Syndrome |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spinocerebellar Ataxia 29 |
Spinocerebellar ataxia |
Pubtator |
38284444 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tonic - clonic seizures |
Seizure |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |