| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Aqueductal Stenosis |
Aqueductal Stenosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain atrophy |
Brain atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
40352177 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Hypoplasia |
Cerebellar Hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral atrophy |
Cerebral Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic kidney disease stage 5 |
Kidney Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Class III malocclusion |
Malocclusion |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
29483219 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
26263387 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
26263387, 33547416 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes |
Diabetes |
GWASCAT_DG |
31451708 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
GWASCAT_DG |
31451708 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diffuse mesangial sclerosis (disorder) |
Mesangial sclerosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Galloway Mowat syndrome |
Galloway-Mowat Syndrome |
CTD_human_DG |
28805828 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Galloway Mowat syndrome |
Galloway-Mowat Syndrome |
ORPHANET_DG |
28805828 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Galloway Mowat syndrome |
Galloway-Mowat Syndrome |
BEFREE |
30053862, 30141175, 30975089 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Galloway Mowat syndrome |
Galloway-mowat syndrome |
Pubtator |
30053862, 33547416, 36755238 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Galloway-Mowat syndrome |
Galloway-Mowat Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GALLOWAY-MOWAT SYNDROME 4 |
Galloway-Mowat Syndrome |
GENOMICS_ENGLAND_DG |
28805828 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| GALLOWAY-MOWAT SYNDROME 4 |
Galloway-Mowat Syndrome |
UNIPROT_DG |
28805828 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| GALLOWAY-MOWAT SYNDROME 4 |
Galloway-Mowat Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| GALLOWAY-MOWAT SYNDROME 5 |
Galloway-Mowat Syndrome |
GENOMICS_ENGLAND_DG |
28805828, 30053862 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| GALLOWAY-MOWAT SYNDROME 5 |
Galloway-Mowat Syndrome |
UNIPROT_DG |
28805828 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| GALLOWAY-MOWAT SYNDROME 5 |
Galloway-Mowat Syndrome |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Glomerulonephritis |
Glomerulonephritis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glomerulosclerosis (disorder) |
Glomerulosclerosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemiplegia/hemiparesis |
Hemiplegia/hemiparesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hiatal Hernia |
Hiatal Hernia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Diseases |
Kidney Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrotia |
Macrotia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of skin |
Skin cancer |
BEFREE |
29904102 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
31110156 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
29483219 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
BEFREE |
30141175 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Microcephaly |
Microcephaly |
Pubtator |
36755238 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
BEFREE |
28082445 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
Pubtator |
28082445 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrotic Syndrome |
Nephrotic Syndrome |
BEFREE |
28805828 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrotic Syndrome |
Nephrotic Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
Pubtator |
32944406 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pachygyria |
Pachygyria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polymicrogyria |
Polymicrogyria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of skin |
Skin carcinoma |
BEFREE |
29904102 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Steroid resistant nephrotic syndrome of childhood |
Steroid resistant nephrotic syndrome |
BEFREE |
30141175 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |