| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adrenoleukodystrophy |
Adrenoleukodystrophy |
BEFREE |
29908364 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agenesis of Corpus Callosum |
Corpus callosum agenesis |
Pubtator |
31776469 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ameloblastoma |
Ameloblastoma |
Pubtator |
33395399 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Androgen-Insensitivity Syndrome |
Androgen-Insensitivity Syndrome |
BEFREE |
27447624 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis |
Arthritis |
BEFREE |
30377863 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis Rheumatoid |
Rheumatoid arthritis |
Pubtator |
35273614 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal dominant non-syndromic intellectual disability |
Non-Syndromic Intellectual Disability |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| B-Cell Lymphomas |
B-Cell Lymphoma |
BEFREE |
12750159 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
23637631 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
23496902, 25860340 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
23082062 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral atrophy |
Cerebral Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholangiocarcinoma |
Cholangiocarcinoma |
BEFREE |
28258929 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Chronic kidney disease stage 5 |
Kidney Disease |
BEFREE |
30166253 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic lung disease |
Lung Diseases |
BEFREE |
29278878 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cirrhosis |
Cirrhosis |
BEFREE |
21412790, 30690729, 31758432 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complete atrioventricular block |
Complete Atrioventricular Block |
BEFREE |
20505530, 27262945, 29908364 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital contractural arachnodactyly |
Congenital Contractural Arachnodactyly |
BEFREE |
28258929 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental regression |
Developmental regression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes mellitus |
Pubtator |
36837510 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
35257412 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diffuse Large B-Cell Lymphoma |
Diffuse Lymphoma |
BEFREE |
17509395 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diffuse Large B-Cell Lymphoma |
Diffuse Lymphoma |
CTD_human_DG |
22474449 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| DiGeorge Syndrome |
DiGeorge Syndrome |
BEFREE |
8733128 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyskinetic syndrome |
Dyskinetic Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
1063406, 11955450, 15217342, 15284851, 15858577, 16618797, 16982422, 18762582, 19348700, 19854944, 20206336, 22511880, 22831640, 23911319, 24234437, 24253303, 24870542, 26822784, 28135719, 29100083, 8375651, 9147638, 9671304 View all (8 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalopathies |
Epileptic encephalopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
31776469 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
31776469 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophageal neoplasm |
Pubtator |
32104700 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver |
Fatty Liver |
BEFREE |
28099338 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver Disease |
Fatty Liver |
BEFREE |
29908364 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibrosis, Liver |
Liver Fibrosis |
BEFREE |
20505530 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroesophageal reflux disease |
Gastroesophageal Reflux Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
23258846 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
23258846 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
26822784 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Hemophilia A |
Hemophilia |
BEFREE |
21645180 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemophilia, NOS |
Hemophilia |
BEFREE |
21645180 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE |
Hypercholesterolemia |
BEFREE |
21778424 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperuricemia |
Hyperuricemia |
BEFREE |
23956991 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypodontia |
Hypodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Myofibroblastic Tumor |
Inflammatory Myofibroblastic Tumor |
BEFREE |
11485898, 12750159, 12787312, 12920229, 17656252 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Myofibroblastic Tumor |
Inflammatory Myofibroblastic Tumor |
ORPHANET_DG |
17656252 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory myofibroblastic tumor |
Inflammatory Myofibroblastic Tumor |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
31776469 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Ki-1+ Anaplastic Large Cell Lymphoma |
Anaplastic Lymphoma |
BEFREE |
12112524, 12750159 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Failure, Chronic |
Kidney Failure |
BEFREE |
30166253 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
31546341 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
18571811, 23082062, 27519163, 27797287, 28258929, 28261837, 29278878, 29908364, 30690729 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Cirrhosis |
Liver Cirrhosis |
BEFREE |
21412790, 30690729, 31758432 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver neoplasms |
Liver neoplasms |
BEFREE |
28258929, 31562907 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
BEFREE |
10807789, 15492998 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lymphoma |
Lymphoma |
Pubtator |
10807789 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
23637631 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
23637631 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
29769406 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
23637631 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 |
Mental retardation |
UNIPROT_DG |
26822784, 29100083 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 |
Mental retardation |
GENOMICS_ENGLAND_DG |
29100083 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 |
Mental retardation |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
BEFREE |
31776469 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
Pubtator |
31776469 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MiT family translocation renal cell carcinoma |
Renal Carcinoma |
ORPHANET_DG |
12917640, 20073616 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MiT family translocation renal cell carcinoma |
Renal Carcinoma |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement Disorders |
CLINVAR_DG |
1063406, 11955450, 15217342, 15284851, 15858577, 16618797, 16982422, 18762582, 19348700, 19854944, 20206336, 22511880, 22831640, 23911319, 24234437, 24253303, 24870542, 26822784, 28135719, 29100083, 8375651, 9147638, 9671304 View all (8 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multinodular goiter |
Multinodular goiter |
BEFREE |
25981745 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple congenital anomalies |
Multiple Congenital Anomalies |
CLINVAR_DG |
1063406, 11955450, 15217342, 15284851, 15858577, 16618797, 16982422, 18762582, 19348700, 19854944, 20206336, 22511880, 22831640, 23911319, 24234437, 24253303, 24870542, 26822784, 28135719, 29100083, 8375651, 9147638, 9671304 View all (8 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
15492998, 17509395, 18571811, 23228632, 23258846, 26969740, 28261837 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
16380805 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-specific early-onset epileptic encephalopathy |
Non-Specifi Epileptic Encephalopathy |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
Pubtator |
36837510 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
23637631 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor T-Cell Lymphoblastic Leukemia-Lymphoma |
Lymphoblastic Leukemia |
BEFREE |
23637631 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pseudohyperkalemia Cardiff |
Pseudohyperkalemia Cardiff |
BEFREE |
28180193, 29947302, 31272276 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal carcinoma |
Renal Carcinoma |
BEFREE |
12917640 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
12917640 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhabdomyosarcoma |
Rhabdomyosarcoma |
BEFREE |
20956521 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhabdomyosarcoma |
Rhabdomyosarcoma |
Pubtator |
20956521 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seminoma |
Seminoma |
Pubtator |
27487789 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
BEFREE |
31776469 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Shprintzen syndrome |
Shprintzen Syndrome |
BEFREE |
8733128 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
33835633 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Status Epilepticus |
Status Epilepticus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Steatohepatitis |
Fatty Liver |
BEFREE |
16750584, 23383656, 28099338 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |