| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Bone Diseases |
Bone Disease |
BEFREE |
29621230 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
32744318 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Calcinosis |
Calcinosis |
Pubtator |
32259211 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
21373779 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
36062189 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar atrophy |
Cerebellar atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral atrophy |
Cerebral Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Kidney Diseases |
Kidney Disease |
BEFREE |
29921869 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
20938052, 22173985, 23118106 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal Neoplasms |
BEFREE |
20938052 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
20938052 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
35924107 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn |
Congenital disorder of glycosylation |
BEFREE |
31089831 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congestive heart failure |
Congestive Heart Failure |
BEFREE |
29333637 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental regression |
Developmental regression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyskinetic syndrome |
Dyskinetic Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dystonia |
Dystonia |
Pubtator |
29382362, 29685658 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dystonia Disorders |
Dystonia |
BEFREE |
29498153, 31089831 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dystonia-parkinsonism-hypermanganesemia syndrome |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Facial paralysis |
Facial paralysis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
23595627 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart failure |
Heart Failure |
BEFREE |
29333637 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HEMANGIOMA, CAPILLARY INFANTILE |
Hemangioma |
BEFREE |
29621230 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hepatolenticular Degeneration |
Hepatolenticular Degeneration |
BEFREE |
28303424 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperinsulinism |
Hyperinsulinism |
BEFREE |
31197210 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypermanganesemia with dystonia 2 |
Hypermanganesemia With Dystonia |
UNIPROT_DG |
27231142 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Hypermanganesemia with dystonia 2 |
Hypermanganesemia With Dystonia |
GENOMICS_ENGLAND_DG |
27231142 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Hypermanganesemia with dystonia 2 |
Hypermanganesemia With Dystonia |
ORPHANET_DG |
27231142, 29382362, 29685658 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Hypermanganesemia with dystonia 2 |
Hypermanganesemia With Dystonia |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Hypermanganesemia with dystonia 2 |
Hypermanganesemia With Dystonia |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Hyperostosis |
Hyperostosis |
BEFREE |
29621230 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoglycemia |
Hypoglycemia |
BEFREE |
23110240 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoglycemia |
Hypoglycemia |
Pubtator |
23110240 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
BEFREE |
28860195 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Bowel Diseases |
Inflammatory Bowel Disease |
BEFREE |
22173985 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Iron Overload |
Iron Overload |
BEFREE |
29437953 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Laryngeal Squamous Cell Carcinoma |
Laryngeal Carcinoma |
BEFREE |
31565549 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
17786358, 26711644 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
24252376 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement Disorders |
BEFREE |
29382362, 29685658 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
29895370 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
31089831 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Diseases |
Neurodegenerative disorder |
Pubtator |
29685658 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
29685658 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoarthritis |
Osteoarthritis |
Pubtator |
37848267 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease Secondary |
Secondary parkinson disease |
Pubtator |
29685658 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinsonian Disorders |
Parkinson Disease |
BEFREE |
29490098, 29498153 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinsonian Disorders |
Parkinson Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
32048780 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Septicemia |
Septicemia |
BEFREE |
29490098, 31351968 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Steatohepatitis |
Fatty Liver |
BEFREE |
28673968 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |