| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Anxiety |
Anxiety Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
BEFREE |
29753921 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorder |
Autism |
Pubtator |
27824329, 32887689, 34356069, 35210569, 35390284 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autism Spectrum Disorders |
Autism Spectrum Disorder |
BEFREE |
28394464 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic behavior |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
Pubtator |
27824329 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune Diseases |
BEFREE |
28598443 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal dominant non-syndromic intellectual disability |
Non-Syndromic Intellectual Disability |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| beta Thalassemia |
Beta thalassemia |
Pubtator |
27434206 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
GWASCAT_DG |
29059683 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Carcinoma |
Carcinoma |
BEFREE |
25238203 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
18277965, 33355042 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
15466176, 16322211, 21856745, 22696682 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic Periodontitis |
Periodontitis |
Pubtator |
27601451 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colitis |
Colitis |
BEFREE |
28598443 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital malformation syndrome |
Congenital Malformation Syndrome |
BEFREE |
29753921 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
29276005 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
36329257 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibrosis, Liver |
Liver Fibrosis |
BEFREE |
25380300 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Follicular adenoma |
Adenoma |
BEFREE |
25238203 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gilles de la Tourette syndrome |
Tourette Syndrome |
BEFREE |
31673123 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
29753921 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Hereditary gingival fibromatosis |
Hereditary Gingival Fibromatosis |
BEFREE |
25380300 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
28191889, 29276005 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Intellectual Disability |
Mental retardation |
BEFREE |
29753921 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| leukemia |
Leukemia |
BEFREE |
27154821 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lewy Body Disease |
Lewy Body Disease |
BEFREE |
31065058 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lewy Body Disease |
Lewy Body Disease |
GWASCAT_DG |
31065058 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lewy Body Disease |
Lewy body disease |
Pubtator |
31065058 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver neoplasms |
Liver neoplasms |
CTD_human_DG |
27064257 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
16619573, 23033341 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus Systemic |
Systemic lupus erythematosus |
Pubtator |
39473004 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of liver |
Liver Cancer |
CTD_human_DG |
27064257 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
15466176, 16322211, 18339843, 21856745, 22696682 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
CTD_human_DG |
29662167 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
30487570 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 |
Mental retardation |
UNIPROT_DG |
23033978, 27824329, 28191889, 28394464 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 |
Mental retardation |
GENOMICS_ENGLAND_DG |
28191889 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 |
Mental retardation |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Dystrophy, Duchenne |
Duchenne Muscular Dystrophy |
BEFREE |
30487570 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Dystrophy, Facioscapulohumeral |
Facioscapulohumeral Muscular Dystrophy |
BEFREE |
22541069 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
10945598, 14759067 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
23889332 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
CTD_human_DG |
28191889 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
BEFREE |
29753921 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NEUROTICISM |
Neuroticism |
BEFREE |
22996044 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
16619573 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonsyndromic Deafness |
Nonsyndromic Deafness |
BEFREE |
10704189 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pituitary Adenoma |
Pituitary adenoma |
BEFREE |
14759067 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic Neoplasms |
CTD_human_DG |
29662167 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Scoliosis, unspecified |
Scoliosis |
BEFREE |
29753921 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe intellectual disability |
Mental retardation |
BEFREE |
28394464 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Small cell carcinoma of lung |
Lung carcinoma |
BEFREE |
10945598, 16619573, 28534531, 31782890 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Small Cell Lung Carcinoma |
Small cell lung carcinoma |
Pubtator |
16619573 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
24670651 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
GWASCAT_DG |
26701879 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
32777176 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tourette Syndrome |
Tourette syndrome |
Pubtator |
35307981 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
30984543 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Usher syndrome, type 1B |
Usher Syndrome |
BEFREE |
10704189 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |