| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Alternating hemiplegia of childhood |
Alternating hemiplegia of childhood |
Pubtator |
28398700 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis |
Arthritis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asphyxia Neonatorum |
Postnatal asphyxia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ataxia |
Ataxia |
Pubtator |
21394101 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ataxia Telangiectasia |
Ataxia Telangiectasia |
BEFREE |
21394101, 25040471 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ataxia Telangiectasia |
Ataxia telangiectasia |
Pubtator |
21394101 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bedwetting |
Nocturnal enuresis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
23055523, 27558965, 28386063, 29974997 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
23055523, 29974997 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bronchitis |
Bronchitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
22884692 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic sinusitis |
Sinusitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conjunctival telangiectasis |
Conjunctival Telangiectasis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophageal neoplasm |
Pubtator |
30506884, 33493132 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Squamous Cell Carcinoma |
Esophageal squamous cell carcinoma |
Pubtator |
33493132 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fanconi Anemia |
Fanconi Anemia |
BEFREE |
22705371 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) |
Anemia |
BEFREE |
22705371 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Generalized enlarged lymph nodes |
Enlarged Lymph Nodes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
31533041 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
31533041 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immune System Diseases |
Immune system disease |
Pubtator |
21626679, 33710309 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immunologic Deficiency Syndromes |
Immunologic Deficiency Syndromes |
BEFREE |
21626679 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immunologic Deficiency Syndromes |
Immunologic Deficiency Syndromes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Diseases, Interstitial |
Lung Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
23055523, 27558965, 28386063, 29974997 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of esophagus |
Esophagus Neoplasm |
BEFREE |
30506884 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
21857671, 27841863, 30704900 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
Pubtator |
21394101 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mood swings |
Mood swings |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
21394101, 27841863, 29403037 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oestrogen receptor positive breast cancer |
Oestrogen Receptor Positive Breast Cancer |
BEFREE |
29974997 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Otitis Media |
Otitis media |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral demyelinating neuropathy |
Demyelinating neuropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Fibrosis |
Pulmonary Fibrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Recurrent sinusitis |
Sinusitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Failure |
Respiratory Failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Riddle Syndrome |
Riddle Syndrome |
GENOMICS_ENGLAND_DG |
17940005, 29255463 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Riddle Syndrome |
Riddle Syndrome |
BEFREE |
19203578, 21426255, 21626679, 27558965, 27903633, 28386063, 28432740 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Riddle Syndrome |
Riddle Syndrome |
ORPHANET_DG |
19203578, 21394101 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Riddle Syndrome |
Riddle syndrome |
Pubtator |
19203578, 21626679, 27903633, 28386063 |
Associate |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| RIDDLE syndrome |
Riddle Syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Riddle Syndrome |
Riddle Syndrome |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Riddle Syndrome |
Riddle Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Specific learning disability |
Specific Learning Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spinocerebellar Ataxia Autosomal Recessive 8 |
Spinocerebellar ataxia |
Pubtator |
21394101 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |