| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Androgen Insensitivity Syndrome |
Androgen insensitivity syndrome |
Pubtator |
23259508 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention Deficit Disorder with Hyperactivity |
Attention deficit hyperactivity disorder |
Pubtator |
29740699 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
GENOMICS_ENGLAND_DG |
29740699 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorder |
Autism |
Pubtator |
29740699, 32553196 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autistic behavior |
Autism |
GENOMICS_ENGLAND_DG |
29740699 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
26452386 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
11331760, 27506935 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
BEFREE |
22162340 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
GENOMICS_ENGLAND_DG |
29740699 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
27129500 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
27129500, 29507187 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Heart Defects |
Congenital heart defects |
BEFREE |
14638541 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
29740699, 37512036, 38453051 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Cardiomyopathies |
Diabetic cardiomyopathy |
BEFREE |
29773993 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diastrophic dysplasia |
Diastrophic dysplasia |
Pubtator |
29740699 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Duane Retraction Syndrome |
Duane retraction syndrome |
Pubtator |
29740699 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperaldosteronism |
Hyperaldosteronism |
Pubtator |
30753137 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
BEFREE |
30769017 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
29740699 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
29740699, 33930262 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Language Development Disorders |
Language development disorders |
Pubtator |
29740699 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
26452386 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of ovary |
Ovarian cancer |
GWASDB_DG |
21964575 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Diseases |
Metabolic Diseases |
BEFREE |
22541436 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Syndrome X |
Metabolic Syndrome |
BEFREE |
22541436 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moderate expressive language delay |
Expressive Language Delay |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moderate intellectual disability |
Mental retardation |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
31520353 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
BEFREE |
29740699 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Non-specific syndromic intellectual disability |
Syndromic Mental Retardation |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Obesity |
Obesity |
BEFREE |
22541436, 31029826, 31520353 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Subaortic stenosis |
Subaortic Stenosis |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Transposition of Great Vessels |
Transposition Of Great Vessels |
BEFREE |
14638541 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
33096476 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Fibroids |
Uterine Fibroids |
BEFREE |
24642626, 29440396 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |