| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acute Erythroblastic Leukemia |
Erythroblastic Leukemia |
BEFREE |
29683372 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agenesis of Corpus Callosum |
Corpus callosum agenesis |
Pubtator |
27964749 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agenesis of corpus callosum |
Agenesis Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Aneurysm, Abdominal |
Aortic Aneurysm |
BEFREE |
30580567 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic coarctation |
Aortic Coarctation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arteriosclerosis |
Arteriosclerosis |
BEFREE |
25212213 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ataxia Telangiectasia |
Ataxia Telangiectasia |
LHGDN |
17560543 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
BEFREE |
25212213 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
23576061 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
12759240, 19362768, 20850481, 29653560 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cirrhosis |
Cirrhosis |
BEFREE |
29731904 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colitis |
Colitis |
BEFREE |
16517939 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
17390049 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic Neoplasms |
LHGDN |
17019648 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
27487143, 27758879, 28072746 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
17390049, 23576061, 28072746 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Abnormalities |
Congenital abnormalities |
Pubtator |
27964749 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital malformation syndrome |
Congenital Malformation Syndrome |
BEFREE |
27964749 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
22982674 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Crohn Disease |
Crohn Disease |
BEFREE |
21257989 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Crohn Disease |
Crohn disease |
Pubtator |
21257989 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
27964749 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ependymoma |
Ependymoma |
BEFREE |
15635072 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Essential Hypertension |
Hypertension |
BEFREE |
25295465 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
37063077 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Global developmental delay |
Developmental Delay |
BEFREE |
27964749 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES |
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES |
GENOMICS_ENGLAND_DG |
27964749 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES |
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES |
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Growth Disorders |
Growth disorder |
Pubtator |
27964749 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperopia |
Hyperopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypochromic anemia |
Hypochromic anemia |
BEFREE |
31455666 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplastic Left Heart Syndrome |
Hypoplastic Left Heart Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
27964749 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
27964749 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
12759240, 20850481, 22214764, 22372401, 23954442, 29653560, 29731904, 30142986 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
LHGDN |
12759240 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Cirrhosis |
Liver Cirrhosis |
BEFREE |
29731904 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver neoplasms |
Liver neoplasms |
BEFREE |
22372401 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
19583777 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
23576061 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrostomia |
Macrostomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of liver |
Liver Cancer |
BEFREE |
30142986 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
27487143, 27758879 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
17390049 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
22354972 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitral Valve Stenosis |
Mitral Valve Stenosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
15635072, 20850481, 22982674, 27487143, 29731904, 30142986 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Patent ductus arteriosus |
Patent ductus arteriosus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psoriasis |
Psoriasis |
BEFREE |
15175029 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Dysplasia |
Renal dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal dysplasia |
Renal dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Simple renal cyst |
Renal cyst |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |