| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adult-onset citrullinemia type 2 |
Citrullinemia |
BEFREE |
25533124 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ataxia |
Ataxia |
Pubtator |
37846133 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune disease |
Pubtator |
37846133 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blindness |
Blindness |
Pubtator |
37846133 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachycephaly |
Brachycephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
25751270, 26334757 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
31401980 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
34763625, 34981667 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Lobular |
Lobular carcinoma |
Pubtator |
28124996 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
32434419, 37033923 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Central nervous system demyelination |
Central Nervous System Demyelination |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral Palsy |
Cerebral palsy |
Pubtator |
23695280 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebrovascular accident |
Stroke |
BEFREE |
29765501 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic neoplasm |
Pubtator |
37543674, 38179743 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
28923398 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
31949199, 38186579 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus carinatum |
Congenital Pectus Carinatum |
BEFREE |
31434294 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deglutition Disorders |
Dysphagia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
BEFREE |
29765501 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental regression |
Developmental regression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Nephropathy |
Diabetic Nephropathy |
BEFREE |
29469229 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver |
Fatty Liver |
BEFREE |
11296696, 28298541 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
35406793 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss |
Hearing loss |
Pubtator |
37846133 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hepatitis B |
Hepatitis b |
Pubtator |
34763625 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hepatitis C |
Hepatitis c |
Pubtator |
34763625 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypodontia |
Hypodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intrahepatic Cholestasis of Pregnancy |
Intrahepatic cholestasis of pregnancy |
Pubtator |
34721396 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukodystrophy |
Leukodystrophy |
BEFREE |
30312667 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukodystrophy |
Leukodystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipid Metabolism Disorders |
Lipid Metabolism Disorders |
BEFREE |
30709407 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
CTD_human_DG |
12771043, 15565109 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
15565109, 21760938, 21801867, 29491006, 29563328 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Diseases |
Liver disease |
Pubtator |
34763625 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
31322542 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
BEFREE |
31401980 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
Pubtator |
31401980 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of liver |
Liver Cancer |
BEFREE |
29491006 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Depression |
Mental Depression |
BEFREE |
29765501 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Diseases |
Metabolic Diseases |
BEFREE |
28077576 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Syndrome X |
Metabolic Syndrome |
BEFREE |
29765501 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial Diseases |
BEFREE |
30022066 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neonatal Hypotonia |
Hypotonia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
25751270, 29290822 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
22508517 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-alcoholic Fatty Liver Disease |
Non-Alcoholic Fatty Liver Disease |
BEFREE |
29563328, 29704577 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
Pubtator |
36371454 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peroxisomal ACYL-COA oxidase deficiency |
Peroxisomal Acyl-CoA Oxidase Deficiency |
UNIPROT_DG |
11815777, 17458872, 8040306 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Peroxisomal ACYL-COA oxidase deficiency |
Peroxisomal Acyl-CoA Oxidase Deficiency |
GENOMICS_ENGLAND_DG |
11815777, 17458872, 18536048, 25655951, 27604308 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Peroxisomal ACYL-COA oxidase deficiency |
Peroxisomal Acyl-CoA Oxidase Deficiency |
BEFREE |
16773508, 22508517 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Peroxisomal ACYL-COA oxidase deficiency |
Peroxisomal Acyl-CoA Oxidase Deficiency |
ORPHANET_DG |
22508517 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Peroxisomal acyl-CoA oxidase deficiency |
Peroxisomal Acyl-CoA Oxidase Deficiency |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Peroxisomal ACYL-COA oxidase deficiency |
Peroxisomal Acyl-CoA Oxidase Deficiency |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Peroxisomal ACYL-COA oxidase deficiency |
Peroxisomal Acyl-CoA Oxidase Deficiency |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Peroxisomal Disorders |
Peroxisomal disorder |
Pubtator |
17603022, 31401980 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinitis Pigmentosa |
Retinitis Pigmentosa |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rod-Cone Dystrophy |
Rod-cone dystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural hearing loss, bilateral |
Sensorineural hearing loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Speech Disorders |
Speech Disorders |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
24321173, 29290822 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Steatohepatitis |
Fatty Liver |
BEFREE |
11296696, 21760938, 21801867, 28053052, 28298541, 30179264 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
28388658 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vision Disorders |
Visual disorder |
Pubtator |
37846133 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |