| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| ALG1-CDG |
Congenital Disorder Of Glycosylation |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| AMYOTROPHIC LATERAL SCLEROSIS 1 |
Lateral Sclerosis |
BEFREE |
11298796 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
31092851, 9694254 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of larynx |
Laryngeal carcinoma |
BEFREE |
12616185 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
25174824 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral atrophy |
Cerebral Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebrovascular accident |
Stroke |
BEFREE |
29269399 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic Neoplasms |
BEFREE |
1584781 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital disorder of glycosylation type 1K |
Congenital disorder of glycosylation |
BEFREE |
14709599, 14973782, 20679665, 24157261 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital disorder of glycosylation type 1K |
Congenital disorder of glycosylation |
UNIPROT_DG |
14709599, 14973778, 14973782, 26931382 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital disorder of glycosylation type 1K |
Congenital disorder of glycosylation |
CLINVAR_DG |
14709599, 14973778, 14973782, 20679665, 22966035, 26453362, 26931382, 27172925, 27325525, 28554332 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital disorder of glycosylation type 1K |
Congenital disorder of glycosylation |
GENOMICS_ENGLAND_DG |
14973778, 26931382, 27325525, 27604308 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital disorder of glycosylation type 1K |
Congenital disorder of glycosylation |
Pubtator |
20679665 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital disorder of glycosylation type 1K |
Congenital disorder of glycosylation |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Disorder Of Glycosylation Type In |
Congenital disorder of glycosylation |
Pubtator |
14973778, 20679665 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Disorders of Glycosylation |
Congenital disorder of glycosylation |
BEFREE |
14709599, 22966035, 24157261, 25192513, 26931382, 27670784, 31420886 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Disorders of Glycosylation |
Congenital disorder of glycosylation |
CLINVAR_DG |
14709599, 14973778, 14973782, 25956699, 26931382, 27172925, 27325525, 28554332 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital Disorders of Glycosylation |
Congenital disorder of glycosylation |
Pubtator |
14709599, 20679665, 26335155, 26805780, 26931382, 27325525 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Congenital microcephaly |
Congenital Microcephaly |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
16249430 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysphasia |
Dysphasia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Edema |
Edema |
Pubtator |
27325525 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exophthalmos |
Proptosis |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibroadenoma |
Fibroadenoma |
BEFREE |
31092851 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Finnish congenital nephrotic syndrome |
Finnish Congenital Nephrotic Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glycogen Storage Disease XIV |
Glycogen storage disease |
Pubtator |
38256263, 38470198 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Graves Disease |
Graves Disease |
BEFREE |
22090273, 30504400 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hepatic methionine adenosyltransferase deficiency |
Hepatic Methionine Adenosyltransferase Deficiency |
BEFREE |
8770875 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hodgkin Disease |
Hodgkin Disease |
BEFREE |
9694254 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrops Fetalis, Non-Immune |
Hydrops Fetalis |
GENOMICS_ENGLAND_DG |
14973778 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrops Fetalis, Non-Immune |
Hydrops Fetalis |
BEFREE |
31420886 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrops Fetalis, Non-Immune |
Hydrops Fetalis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophic Cardiomyopathy |
Hypertrophic cardiomyopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogonadism |
Hypogonadism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
BEFREE |
30098078 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
35715422 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Kidney Diseases |
Kidney Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Laryngeal Squamous Cell Carcinoma |
Laryngeal Carcinoma |
BEFREE |
12616185 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
30504401 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Failure |
Liver failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus, Systemic |
Lupus Erythematosus |
BEFREE |
18601746 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Nephritis |
Lupus Nephritis |
BEFREE |
18601746 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma, Diffuse |
Lymphoma |
BEFREE |
16322236 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
31092851, 9694254 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of larynx |
Larynx cancer |
BEFREE |
12616185 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
25174824 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
29854276 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neonatal Hypotonia |
Hypotonia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephritis |
Nephritis |
BEFREE |
18601746 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrosis congenital |
Nephrotic syndrome |
Pubtator |
27325525 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurogenic Urinary Bladder |
Neurogenic Urinary Bladder |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nodular Goiter |
Nodular Goiter |
BEFREE |
30504400 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
23064051 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Premature adrenarche |
Premature adrenarche |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Proteinuria |
Proteinuria |
Pubtator |
27325525 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
BEFREE |
29309433 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seizures |
Seizures |
Pubtator |
27325525, 35715422 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Diseases |
Thyroid Diseases |
BEFREE |
22090273 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tonic - clonic seizures |
Seizure |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Walker-Warburg congenital muscular dystrophy |
Walker-Warburg Congenital Muscular Dystrophy |
BEFREE |
12757935, 15037715 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |