| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Agyria |
Agyria |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Aneurysm |
Aortic Aneurysm |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Valve Insufficiency |
Aortic Valve Insufficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astigmatism |
Astigmatism |
BEFREE |
31710370 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
30413519 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
33503040 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Squamous Cell |
Squamous cell carcinoma |
Pubtator |
35982901 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Diseases |
Cerebellar diseases |
Pubtator |
27773428 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cobblestone Lissencephaly |
Cobblestone Lissencephaly |
BEFREE |
27773428, 28973161, 31851597 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cobblestone Lissencephaly |
Cobblestone Lissencephaly |
GENOMICS_ENGLAND_DG |
27773428 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cobblestone Lissencephaly |
Cobblestone lissencephaly |
Pubtator |
27773428, 28973932 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congestive heart failure |
Congestive Heart Failure |
BEFREE |
29667144, 31484861 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermoid Cyst |
Dermoid Cyst |
BEFREE |
31735992 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dry Eye Syndromes |
Dry Eye Syndromes |
BEFREE |
30481814 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
28973161, 29717699 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Squamous Cell Carcinoma |
Esophageal squamous cell carcinoma |
Pubtator |
37752569 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eye Abnormalities |
Eye abnormalities |
Pubtator |
27773428 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroesophageal reflux disease |
Gastroesophageal Reflux Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart failure |
Heart Failure |
BEFREE |
29667144, 31484861 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
Pubtator |
27773428 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoxia |
Hypoxia |
Pubtator |
37752569 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
28973161 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukopenia |
Leukopenia |
BEFREE |
22675173 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lissencephaly |
Lissencephaly |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lissencephaly |
Lissencephaly |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LISSENCEPHALY 8 |
Lissencephaly |
UNIPROT_DG |
27773428 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| LISSENCEPHALY 8 |
Lissencephaly |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| LISSENCEPHALY 8 |
Lissencephaly |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Lymphoma |
Lymphoma |
BEFREE |
22675173, 23768637 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma, Extranodal NK-T-Cell |
Lymphoma |
BEFREE |
29368155 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
30413519 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Infarction |
Myocardial Infarction |
BEFREE |
29667144 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
BEFREE |
29454328, 30894159, 31735992 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopic astigmatism |
Myopic astigmatism |
BEFREE |
29454328 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasal Type Extranodal NK/T-Cell Lymphoma |
Extranodal NK T Cell Lymphoma |
BEFREE |
22675173, 23768637, 30449214 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neutropenia |
Neutropenia |
BEFREE |
22675173 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nocturnal epilepsy |
Nocturnal Epilepsy |
BEFREE |
28973161 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
31417660 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pachygyria |
Pachygyria |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Patent ductus arteriosus |
Patent ductus arteriosus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Periventricular Nodular Heterotopia |
Periventricular Nodular Heterotopia |
BEFREE |
28973161 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Periventricular Nodular Heterotopia |
Periventricular Nodular Heterotopia |
ORPHANET_DG |
28973161 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Periventricular nodular heterotopia |
Periventricular Nodular Heterotopia |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Periventricular Nodular Heterotopia |
Periventricular Nodular Heterotopia |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Polymicrogyria |
Polymicrogyria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe myopia |
Myopia |
BEFREE |
28963702 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |