| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Autism Spectrum Disorder |
Autism |
Pubtator |
29656860, 31127942 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autism Spectrum Disorders |
Autism Spectrum Disorder |
BEFREE |
29656860 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autistic behavior |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Burkitt Lymphoma |
Burkitt`s Lymphoma |
BEFREE |
12140756 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy Hypertrophic |
Hypertrophic cardiomyopathy |
Pubtator |
33103328 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cleft Lip |
Cleft lip |
Pubtator |
33103328 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clumsiness - motor delay |
Motor delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Abnormalities |
Congenital abnormalities |
Pubtator |
29656860, 33103328 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Heart Defects |
Congenital heart defects |
BEFREE |
29621621 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
28990276, 33103328 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Developmental regression |
Developmental regression |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
BEFREE |
29656860 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epiretinal Membrane |
Epiretinal Membrane |
BEFREE |
29623543 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
29621621 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Global developmental delay |
Developmental Delay |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Growth Disorders |
Growth disorder |
Pubtator |
35185781 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypersensitivity Delayed |
Hypersensitivity |
Pubtator |
29656860 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
26522270, 28990276, 29656860 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
CTD_human_DG |
28191889 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
28191889 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
28990276, 29656860, 33103328 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
21351257 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental deficiency |
Mental retardation |
CTD_human_DG |
28191889 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 |
Mental retardation |
UNIPROT_DG |
28191889 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 |
Mental retardation |
GENOMICS_ENGLAND_DG |
28191889 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 |
Mental retardation |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microphthalmos |
Microphthalmos |
Pubtator |
37130971 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild Mental Retardation |
Mental retardation |
BEFREE |
29656860 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moderate intellectual disability |
Mental retardation |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
12140756, 29864700 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
BEFREE |
28990276 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ogden syndrome |
Ogden Syndrome |
BEFREE |
25489052 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillary thyroid carcinoma |
Papillary thyroid carcinoma |
BEFREE |
12140756 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pervasive Development Disorder |
Autism spectrum disorder |
BEFREE |
29656860 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Profound Mental Retardation |
Mental retardation |
CTD_human_DG |
28191889 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinopathy of Prematurity |
Retinopathy |
LHGDN |
16518308 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seizures |
Seizures |
Pubtator |
29656860 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin-picking |
Skin-picking |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |