| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adenocarcinoma of lung (disorder) |
Lung adenocarcinoma |
BEFREE |
27613601 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Syndromic microphthalmia |
BEFREE |
30643981 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
28481424, 30106449 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
40524177 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
29664235 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Ovarian Epithelial |
Ovarian Epithelial carcinoma |
BEFREE |
28481424 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
BEFREE |
17928815 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cirrhosis |
Cirrhosis |
BEFREE |
28546007, 29858376 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
10910037, 19654012, 28481424 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
28551666 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Carcinoma |
Endometrial carcinoma |
BEFREE |
28634727 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver Disease |
Fatty Liver |
BEFREE |
30449681 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibrosis, Liver |
Liver Fibrosis |
BEFREE |
28885731 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glycogen Storage Disease Type I |
Glycogen Storage Disease |
BEFREE |
29740774, 30637773, 31735334 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glycogen storage disease type Ia |
Glycogen Storage Disease |
BEFREE |
30637773, 31735334 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hepatocellular Adenoma |
Hepatocellular adenoma |
BEFREE |
30218633, 30637773, 31735334 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HYPOMYELINATION AND CONGENITAL CATARACT |
Hypomyelination and Congenital Cataract |
BEFREE |
16951682, 21911699, 22461884, 23998934 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| HYPOMYELINATION AND CONGENITAL CATARACT |
Hypomyelination and Congenital Cataract |
GENOMICS_ENGLAND_DG |
16951682, 17928815, 25655951 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| HYPOMYELINATION AND CONGENITAL CATARACT |
Hypomyelination and Congenital Cataract |
ORPHANET_DG |
16951682 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| HYPOMYELINATION AND CONGENITAL CATARACT |
Hypomyelination and Congenital Cataract |
UNIPROT_DG |
16951682, 21911699, 23998934, 26571211 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| HYPOMYELINATION AND CONGENITAL CATARACT |
Hypomyelination and Congenital Cataract |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| HYPOMYELINATION AND CONGENITAL CATARACT |
Hypomyelination and Congenital Cataract |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Hypomyelination-congenital cataract syndrome |
Hypomyelination and Congenital Cataract |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
CTD_human_DG |
21937992 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Intrahepatic Cholangiocarcinoma |
Intrahepatic Cholangiocarcinoma |
BEFREE |
28603094, 29450868 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukodystrophy |
Leukodystrophy |
BEFREE |
22461884 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukodystrophy |
Leukodystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukodystrophy Hypomyelinating 5 |
Hypomyelinating leukodystrophy |
Pubtator |
17974614 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
21911699, 22461884, 23998934, 24135722, 26133708, 28197686, 28481424, 28546007, 30449681, 30554420, 31434354, 31449859, 31490415, 31547836 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Cirrhosis |
Liver Cirrhosis |
BEFREE |
28546007, 29858376 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
30106449 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of endometrium |
Endometrial Cancer |
BEFREE |
28634727 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
29664235 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of ovary |
Ovarian cancer |
BEFREE |
28481424 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
28281970, 28481424, 31547836 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental deficiency |
Mental retardation |
CTD_human_DG |
21937992 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Diseases |
Metabolic Diseases |
BEFREE |
29956206, 31735334 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moderate intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
19318581, 26215124, 28273155, 28326574, 28546007, 29367765, 30592283, 31065274, 31709727, 31770197 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-alcoholic Fatty Liver Disease |
Non-Alcoholic Fatty Liver Disease |
BEFREE |
29956206, 29956208 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Carcinoma |
Ovarian Carcinoma |
BEFREE |
28481424 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
28481424 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polyneuropathy |
Polyneuropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Profound Mental Retardation |
Mental retardation |
CTD_human_DG |
21937992 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Paraplegia |
Spastic Paraplegia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Steatohepatitis |
Fatty Liver |
BEFREE |
28869588 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple Negative Breast Neoplasms |
BEFREE |
28415798, 31196010 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |