| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Amelogenesis Imperfecta |
Amelogenesis imperfecta |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia |
Anemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aplastic Anemia |
Aplastic anemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astigmatism |
Astigmatism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
Pubtator |
30755392 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Marrow Failure Disorders |
Bone marrow failure syndromes |
Pubtator |
27346687, 37450374 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone marrow failure syndrome 1 |
Bone Marrow Failure Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone marrow failure syndrome 2 |
Bone Marrow Failure Syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| BONE MARROW FAILURE SYNDROME 3 |
Bone Marrow Failure Syndrome |
UNIPROT_DG |
27346687 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| BONE MARROW FAILURE SYNDROME 3 |
Bone Marrow Failure Syndrome |
GENOMICS_ENGLAND_DG |
27346687, 29700810 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| BONE MARROW FAILURE SYNDROME 3 |
Bone Marrow Failure Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Bone Marrow failure syndromes |
Bone marrow failure syndrome |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Dysplasia Of The Hip |
Developmental dysplasia of the hip |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
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 |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dental Enamel Hypoplasia |
Dental Enamel Hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
30755392 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Insulin-Dependent |
Diabetes Mellitus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyskeratosis Congenita |
Dyskeratosis Congenita |
BEFREE |
29700810 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dystrophia unguium |
Nail dystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eczema |
Eczema |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exocrine pancreatic insufficiency |
Exocrine pancreatic insufficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperkeratosis |
Hyperkeratosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperopia |
Hyperopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypopigmentation-immunodeficiency disease |
Hypopigmentation-Immunodeficiency Disease |
BEFREE |
19030707 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ichthyoses |
Ichthyosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immune System Diseases |
Immune system disease |
Pubtator |
30755392 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inherited bone marrow failure syndrome |
Inherited Bone Marrow Failure Syndrome |
CLINVAR_DG |
27346687 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
27346687 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malabsorption Syndrome |
Malabsorption Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
27346687 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metaphyseal chondrodysplasia |
Metaphyseal Chondrodysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microdontia (disorder) |
Microdontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild Mental Retardation |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myelodysplasia |
Myelodysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MYELODYSPLASTIC SYNDROME |
Myelodysplastic Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Infarction |
Myocardial Infarction |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial necrosis |
Myocardial necrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neck webbing |
Neck Webbing |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrocalcinosis |
Nephrocalcinosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neutropenia |
Neutropenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteopenia |
Osteopenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancytopenia |
Pancytopenia |
BEFREE |
27346687, 29700810 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancytopenia |
Pancytopenia |
GENOMICS_ENGLAND_DG |
27346687, 29700810 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancytopenia |
Pancytopenia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancytopenia |
Pancytopenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Recurrent aphthous ulcer |
Aphthous Ulcer |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Distress Syndrome, Newborn |
Congenital alveolar dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Shwachman syndrome |
Shwachman Syndrome |
ORPHANET_DG |
28062395 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Shwachman syndrome |
Shwachman Syndrome |
BEFREE |
29700810, 30413969 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Shwachman syndrome |
Shwachman Syndrome |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Shwachman-Diamond syndrome |
Shwachman-Diamond Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Slipped Capital Femoral Epiphyses |
Slipped Capital Femoral Epiphyses |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Specific learning disability |
Specific Learning Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |