| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Accessory kidney |
Accessory Kidney |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of prostate |
Prostate adenocarcinoma |
BEFREE |
28107606 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia |
Alopecia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anencephaly |
Anencephaly |
BEFREE |
29573971 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anencephaly |
Anencephaly |
Pubtator |
29573971 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis Rheumatoid |
Rheumatoid arthritis |
Pubtator |
35499309 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astrocytoma |
Astrocytoma |
BEFREE |
30468298 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astrocytoma |
Astrocytoma |
Pubtator |
30468298 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal dominant Robinow syndrome |
Robinow Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Avascular necrosis of the capital femoral epiphysis |
Avascular Necrosis Of The Capital Femoral Epiphysis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Neoplasms |
Brain neoplasms |
Pubtator |
24933634 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
28035400 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
33910530 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
33860601 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
BEFREE |
9344861 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
14562050, 20572159, 24933634, 29193083 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Squamous Cell |
Squamous cell carcinoma |
Pubtator |
24004673 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Obstructive Airway Disease |
Chronic Obstructive Pulmonary Disease |
BEFREE |
21980461 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly |
Clinodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of fingers |
Clinodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of the 5th finger |
Camptodactyly of fingers |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
24427302, 33016900 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital atresia of pulmonary artery |
Congenital Atresia Of Pulmonary Artery |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital euryblepharon |
Congenital Euryblepharon |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital exomphalos |
Congenital Exomphalos |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of penis |
Congenital Hypoplasia Of Penis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus carinatum |
Congenital Pectus Carinatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus excavatum |
Congenital Pectus Excavatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental absence of tooth |
Anodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diffuse Large B-Cell Lymphoma |
Diffuse Lymphoma |
BEFREE |
27276707 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Double Outlet Right Ventricle |
Double Outlet Right Ventricle |
BEFREE |
19008950 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Neoplasms |
Endometrial neoplasm |
Pubtator |
36614043 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epispadias |
Epispadias |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exophthalmos |
Proptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fingernail dysplasia |
Fingernail dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Foramen Ovale, Patent |
Patent foramen ovale |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
29200599 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
29200599, 30468298 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
29200599 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hernia, Femoral |
Hernia, Femoral |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hirschsprung Disease |
Hirschsprung Disease |
BEFREE |
24040443 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hirschsprung Disease |
Hirschsprung disease |
Pubtator |
24040443 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydronephrosis |
Hydronephrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypodontia |
Hypodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of right heart |
Cardiac Hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypospadias |
Hypospadias |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Legg-Calve-Perthes Disease |
Legg-Calve-Perthes Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
17030191, 28455968, 29445127 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung Neoplasms |
LHGDN |
18692936 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
22461838, 24933634 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macroglossia |
Macroglossia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Major Depressive Disorder |
Mental Depression |
BEFREE |
26008736, 30242173 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
28035400 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
14562050, 20572159, 24933634, 29193083 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
30266990, 30390070 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
28455968, 30468298 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Meningioma |
Meningioma |
BEFREE |
28705114 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Meningioma |
Meningioma |
Pubtator |
28705114 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesomelia |
Mesomelia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesothelioma |
Mesothelioma |
BEFREE |
18225596, 29403559 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesothelioma |
Mesothelioma |
Pubtator |
18225596 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micromelia |
Micromelia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myeloid Leukemia, Chronic |
Myeloid Leukemia |
BEFREE |
27643437 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
17030191, 30536315, 31675687 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neural Tube Defects |
Neural Tube Defect |
BEFREE |
22892949 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neural Tube Defects |
Neural tube defect |
Pubtator |
29573971, 29618362 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
19815336 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
14562050, 18692936, 20572159, 25156800 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oligodontia |
Oligodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
38350242 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary craniopharyngioma |
Papillary Craniopharyngioma |
BEFREE |
29618362 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Patent ductus arteriosus |
Patent ductus arteriosus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Penis agenesis |
Penis Agenesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Port-Wine Stain |
Phakomatosis pigmentovascularis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posteriorly rotated ear |
Posteriorly Rotated Ear |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
30266990, 30390070 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
33641528, 38583012 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Disease Chronic Obstructive |
Chronic obstructive pulmonary disease |
Pubtator |
21980461 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Robinow Syndrome |
Robinow Syndrome |
BEFREE |
26924530, 29276006, 29575616, 30521570 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Robinow Syndrome |
Robinow Syndrome |
ORPHANET_DG |
26924530 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Robinow Syndrome |
Robinow syndrome |
Pubtator |
26924530, 29276006 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Robinow Syndrome |
Robinow Syndrome |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Robinow Syndrome, Autosomal Dominant |
Robinow Syndrome |
BEFREE |
26924530, 29575616 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Robinow Syndrome, Autosomal Dominant |
Robinow Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 |
Robinow Syndrome |
CLINVAR_DG |
26924530 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 |
Robinow Syndrome |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 |
Robinow Syndrome |
GENOMICS_ENGLAND_DG |
26924530, 29575616 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 |
Robinow Syndrome |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sarcoma Ewing |
Sarcoma |
Pubtator |
23396968 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Specific learning disability |
Specific Learning Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spina Bifida |
Spina Bifida |
BEFREE |
29573971 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
BEFREE |
23908357, 24004673 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
20658532, 30536315 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
27349552 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strawberry nevus of skin |
Strawberry Nevus Of Skin |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly of fingers |
Syndactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tricuspid Valve Insufficiency |
Tricuspid Valve Insufficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Unipolar Depression |
Mental Depression |
BEFREE |
30242173 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
23301094, 31675687 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Septal Defects |
Ventricular septal defect |
BEFREE |
23095888 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Septal Defects |
Ventricular septal defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |