| 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 |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
32046242 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Fibrillation |
Atrial fibrillation |
Pubtator |
40113094 |
Associate |
★★★★★★☆☆☆☆ 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 |
| Brain Diseases |
Brain disease |
Pubtator |
25845469 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
28588722 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
26899600, 31759986 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cantu syndrome |
Hypertrichotic osteochondrodysplasia |
BEFREE |
24176758, 26142302, 27247394, 30089727, 30355756, 31821173 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
35069777 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
22988093 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Abnormalities |
Cardiovascular Abnormalities |
BEFREE |
26142302 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular Diseases |
BEFREE |
25245031 |
|
★★★★★★☆☆☆☆ 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 |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Heart Defects |
Congenital heart defects |
BEFREE |
31255603 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congestive heart failure |
Congestive Heart Failure |
BEFREE |
21586291 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Vasospasm |
Coronary Artery Vasospasm |
BEFREE |
12122112 |
|
★★★★★★☆☆☆☆ 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 |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
GWASCAT_DG |
30054458 |
|
★★★★★★☆☆☆☆ 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 |
| Fibrosis, Liver |
Liver Fibrosis |
BEFREE |
31805036 |
|
★★★★★★☆☆☆☆ 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 |
| Heart Defects Congenital |
Congenital heart defect |
Pubtator |
25845469 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
BEFREE |
12122112 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrichosis |
HYPERTRICHOSIS |
BEFREE |
24176758 |
|
★★★★★★☆☆☆☆ 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 |
21868677, 25527630, 25845469 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
25845469 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
25845469 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
25684393 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver neoplasms |
Liver neoplasms |
BEFREE |
25684393 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphopenia |
Lymphopenia |
BEFREE |
30218073 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
28588722 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
22988093 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
26899600 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 |
Mental retardation |
UNIPROT_DG |
21868677 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 |
Mental retardation |
GENOMICS_ENGLAND_DG |
25845469 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 |
Mental retardation |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 |
Mental retardation |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metastatic melanoma |
Metastatic Melanoma |
BEFREE |
16964286 |
|
★★★★★★☆☆☆☆ 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 |
| Myocardial Infarction |
Myocardial Infarction |
BEFREE |
27914500 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Ischemia |
Myocardial Ischemia |
BEFREE |
27914500 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
23625751 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
25273169 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polymicrogyria |
Polymicrogyria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinoblastoma |
Retinoblastoma |
BEFREE |
25684393 |
|
★★★★★★☆☆☆☆ 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 |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
23625751 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stereotyped Behavior |
Stereotyped Behavior |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
35672824 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |