| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Aphasia |
Aphasia |
Pubtator |
33506510 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis |
Arthritis |
BEFREE |
19606256 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
BEFREE |
28684908 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
26895380 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carney Complex |
Carney Complex |
BEFREE |
31396817 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral Infarction |
Ischemic stroke |
Pubtator |
32354168 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Abnormalities |
Congenital abnormalities |
Pubtator |
33506510 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cutaneous Mastocytosis |
Cutaneous mastocytosis |
BEFREE |
30703475 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cystic Fibrosis |
Cystic Fibrosis |
BEFREE |
31311988 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
BEFREE |
25918994 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermatitis, Atopic |
Dermatitis |
BEFREE |
30459600 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
33675273, 35627197 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Disruptive, Impulse Control, and Conduct Disorders |
Impulse control disorder |
BEFREE |
30339978 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
28686853 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eczema |
Eczema |
BEFREE |
30459600 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibrosis, Liver |
Liver Fibrosis |
BEFREE |
28757911 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
28686853 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
28686853, 33675273, 35627197, 38575527 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
28921851 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lung diseases |
Lung Diseases |
BEFREE |
7882902 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Major Depressive Disorder |
Mental Depression |
BEFREE |
25918994 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
26895380 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
11719444 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Depression |
Mental Depression |
BEFREE |
25918994 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple congenital anomalies |
Multiple Congenital Anomalies |
CLINVAR_DG |
28686853 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
24788885, 29483644, 7669585, 7780962 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
19446606 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neutrophilia (disorder) |
Neutrophilia |
BEFREE |
25762737 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
BEFREE |
24782490, 27797749 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Painful Bladder Syndrome |
Interstitial cystitis |
BEFREE |
30134811 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prune Belly Syndrome |
Prune belly syndrome |
BEFREE |
30134811 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pyelonephritis |
Pyelonephritis |
BEFREE |
28765918 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Recurrent otitis media |
Otitis media |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rheumatoid Arthritis |
Rheumatoid arthritis |
BEFREE |
27797749 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seizures |
Seizures |
Pubtator |
28686853, 33506510 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Septicemia |
Septicemia |
BEFREE |
29432911 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| SKRABAN-DEARDORFF SYNDROME |
SKRABAN-DEARDORFF SYNDROME |
UNIPROT_DG |
28686853 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| SKRABAN-DEARDORFF SYNDROME |
SKRABAN-DEARDORFF SYNDROME |
ORPHANET_DG |
28686853 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| SKRABAN-DEARDORFF SYNDROME |
SKRABAN-DEARDORFF SYNDROME |
GENOMICS_ENGLAND_DG |
28921851 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| SKRABAN-DEARDORFF SYNDROME |
SKRABAN-DEARDORFF SYNDROME |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Sleep Apnea Syndromes |
Sleep Apnea |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Type II Mucolipidosis |
Mucolipidosis |
BEFREE |
30339978 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Unipolar Depression |
Mental Depression |
BEFREE |
25918994 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Van der Woude syndrome |
Van Der Woude Syndrome |
BEFREE |
29266409 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |