| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Abetalipoproteinemia |
Abetalipoproteinemia |
BEFREE |
21874758, 23043934, 26546829 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Abetalipoproteinemia |
Abetalipoproteinemia |
Pubtator |
27179706, 36771214 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Abetalipoproteinemia |
Abetalipoproteinemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
25703997 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
12450215 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Obstructive Airway Disease |
Chronic Obstructive Pulmonary Disease |
BEFREE |
30914956 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chylomicron retention disease |
Chylomicron Retention Disease |
CLINVAR_DG |
12692552, 17945526, 19285442 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Chylomicron retention disease |
Chylomicron Retention Disease |
UNIPROT_DG |
12692552, 17309654, 19274794 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Chylomicron retention disease |
Chylomicron Retention Disease |
BEFREE |
15017362, 17945526, 18786134, 19285442, 19846172, 21235735, 21874758, 22104167, 22441101, 23043934, 25559265, 26546829, 28982670, 29540175, 31253576 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Chylomicron retention disease |
Chylomicron Retention Disease |
ORPHANET_DG |
18786134, 21235735 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Chylomicron retention disease |
Chylomicron retention disease |
Pubtator |
21235735, 22104167, 24338480, 29540175, 34629076, 36771214 |
Associate |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Chylomicron retention disease |
Chylomicron Retention Disease |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Chylomicron retention disease |
Chylomicron Retention Disease |
GENOMICS_ENGLAND_DG |
27604308 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Chylomicron retention disease |
Chylomicron Retention Disease |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
30943010 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
30943010 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cone-Rod Dystrophy 2 |
Cone-rod dystrophy |
BEFREE |
17570373, 19285442 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Heart Defects |
Congenital heart defects |
BEFREE |
18786134 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dementia |
Dementia |
BEFREE |
25703997 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dementia Vascular |
Vascular dementia |
Pubtator |
25703997 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dementia, Vascular |
Dementia |
BEFREE |
25703997 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver |
Fatty Liver |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hepatoblastoma |
Hepatoblastoma |
BEFREE |
21874758 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypercholesterolemia |
Hypercholesterolemia |
GENOMICS_ENGLAND_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoalbuminemia |
Hypoalbuminemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypobetalipoproteinemia Familial 1 |
Hypoalphalipoproteinemia |
Pubtator |
36771214 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypobetalipoproteinemias |
Hypoalphalipoproteinemia |
BEFREE |
25387865, 31253576 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypobetalipoproteinemias |
Hypoalphalipoproteinemia |
Pubtator |
27179706 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypocholesterolemia |
Hypocholesterolemia |
BEFREE |
17945526, 22441101, 25559265 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypocholesterolemia |
Hypocholesterolemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypotriglyceridemia |
Hypotriglyceridemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malabsorption Syndrome |
Malabsorption Syndrome |
BEFREE |
12692552, 18786134, 22441101, 25559265 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malnutrition |
Malnutrition |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Presenile dementia |
Senile Dementia |
BEFREE |
25703997 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinal Diseases |
Retinal Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Steatohepatitis |
Fatty Liver |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |