| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Absence of septum pellucidum |
Absence Of Septum Pellucidum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorders |
Autism Spectrum Disorder |
BEFREE |
23335808 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic behavior |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal recessive non-syndromic intellectual disability |
Non-Syndromic Intellectual Disability |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
16357137 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
36803542 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Central visual impairment |
Central Visual Impairment |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral atrophy |
Cerebral Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral Palsy |
Cerebral palsy |
Pubtator |
33675180 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cortical Dysplasia |
Cortical Dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
33675180, 35019165 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyskinetic syndrome |
Dyskinetic Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyssomnias |
Dyssomnia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal carcinoma |
Esophageal Carcinoma |
BEFREE |
31037126 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophagus Neoplasm |
BEFREE |
31037126 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophageal neoplasm |
Pubtator |
31037126 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Squamous Cell Carcinoma |
Esophageal squamous cell carcinoma |
Pubtator |
33538099 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibrosis, Liver |
Liver Fibrosis |
BEFREE |
31680332 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Generalized seizures |
Seizure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
23335808, 24623383 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
35019165 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
20664978 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus, Systemic |
Lupus Erythematosus |
BEFREE |
29044928 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphedema distichiasis syndrome |
Lymphedema |
Pubtator |
22407726 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
16357137 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of esophagus |
Esophagus Neoplasm |
BEFREE |
31037126 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
19412162 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
25115392, 29117943 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
29556284 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
BEFREE |
16357137 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
LHGDN |
16357137 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 |
Mental retardation |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 |
Mental retardation |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild Mental Retardation |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moderate intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
16357137, 19412162, 20664978, 25115392, 28905993, 29117943, 29343641, 30171069, 31413110 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
19412162, 24828503 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polymicrogyria |
Polymicrogyria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
30627556 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Salaam Seizures |
Salaam Seizures |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Disorders |
Sleep Disorders |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Small Cell Lung Carcinoma |
Small cell lung carcinoma |
Pubtator |
30627556 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
21537837, 28905993, 31037126 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stereotyped Behavior |
Stereotyped Behavior |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
25115392, 29117943 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |