| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
BEFREE |
31099984 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ballismus |
Ballismus |
BEFREE |
29852244 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bipolar Disorder |
Bipolar disorder |
Pubtator |
19567891 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
15603589 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Abnormalities |
Cardiovascular Abnormalities |
BEFREE |
24362460 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Pain |
Chronic pain |
Pubtator |
36261449 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognitive disorder |
BEFREE |
28342823 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognition disorder |
Pubtator |
36071510 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Abnormalities |
Congenital abnormalities |
Pubtator |
36071510 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Heart Defects |
Congenital heart defects |
BEFREE |
24362460 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cystitis Interstitial |
Interstitial cystitis |
Pubtator |
30973927 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
BEFREE |
20943350 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Depressive disorder |
Mental Depression |
PSYGENET_DG |
20943350, 22308328 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Developmental Disabilities |
Development Disorder |
BEFREE |
21204217 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
29852244 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes |
Diabetes |
BEFREE |
7598690 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
7598690 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
7729621, 8777994 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Down Syndrome |
Down Syndrome |
LHGDN |
15068243, 18303085 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Down Syndrome |
Down Syndrome |
BEFREE |
21204217, 27462820, 28342823, 29929098 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Down Syndrome |
Down syndrome |
Pubtator |
25620207, 9037601 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyskinesias |
Dyskinesia |
Pubtator |
29852244 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dystonia |
Dystonia |
Pubtator |
29852244 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dystonia Disorders |
Dystonia |
BEFREE |
29852244 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
21204217 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exophthalmos |
Proptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial generalized lipodystrophy |
Lipodystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
29852244 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glycogen Storage Disease Type IV |
Glycogen Storage Disease |
LHGDN |
12034888 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glycogen Storage Disease Type IV |
Glycogen storage disease |
Pubtator |
12034888 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Valve Diseases |
Heart valve disease |
Pubtator |
33518654 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperkinesis |
Hyperkinesia |
Pubtator |
29852244 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic generalized epilepsy |
Epilepsy |
BEFREE |
12458027 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
BEFREE |
28342823 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infantile Spasm |
Infantile Spasms |
BEFREE |
27462820, 29929098 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| insulinoma |
Insulinoma |
BEFREE |
7601286 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
15068243 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
36071510 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Juvenile Myoclonic Epilepsy |
Myoclonic Epilepsy |
BEFREE |
10686544 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| KEPPEN-LUBINSKY SYNDROME |
Keppen-Lubinsky Syndrome |
BEFREE |
25620207, 29852244 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| KEPPEN-LUBINSKY SYNDROME |
Keppen-Lubinsky Syndrome |
UNIPROT_DG |
25620207 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| KEPPEN-LUBINSKY SYNDROME |
Keppen-Lubinsky Syndrome |
ORPHANET_DG |
25620207 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| KEPPEN-LUBINSKY SYNDROME |
Keppen-Lubinsky Syndrome |
GENOMICS_ENGLAND_DG |
25620207 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Keppen-Lubinsky syndrome |
Keppen-Lubinsky Syndrome |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| KEPPEN-LUBINSKY SYNDROME |
Keppen-Lubinsky Syndrome |
CTD_human_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| KEPPEN-LUBINSKY SYNDROME |
Keppen-Lubinsky Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Lipodystrophy |
Lipodystrophy |
BEFREE |
25620207, 29852244 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipodystrophy |
Lipodystrophy |
Pubtator |
25620207 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung Neoplasms |
LHGDN |
16109170 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphedema |
Lymphedema |
Pubtator |
28252570 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malformations of Cortical Development |
Cortical development malformation |
Pubtator |
16418593 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Depression |
Mental Depression |
BEFREE |
20943350 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mental Depression |
Mental Depression |
PSYGENET_DG |
20943350, 22308328 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Mental Retardation |
Mental retardation |
BEFREE |
15068243 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement Disorders |
BEFREE |
29852244 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement disorder |
Pubtator |
29852244 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nervous System Diseases |
Nervous system disease |
Pubtator |
36835019 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
BEFREE |
20386724, 8735215 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Psychotic Disorders |
Psychotic disorders |
Pubtator |
19567891 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic tetraparesis |
Spastic tetraparesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Status Epilepticus |
Status Epilepticus |
BEFREE |
28951616 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| T-Cell Lymphoma |
T-Cell Lymphoma |
BEFREE |
26959888 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Nodule |
Thyroid Nodule |
LHGDN |
15772902 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Weaver syndrome |
Weaver syndrome |
Pubtator |
29852244 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| West Syndrome |
West Syndrome |
BEFREE |
27462820, 29929098 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |