| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Agenesis of Corpus Callosum |
Corpus callosum agenesis |
Pubtator |
36593604 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anxiety |
Anxiety Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Autism Spectrum Disorder |
Autism |
Pubtator |
25228304, 27436265, 30739909, 30819258, 36593604 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Autism Spectrum Disorders |
Autism Spectrum Disorder |
BEFREE |
25228304, 27436265 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autistic behavior |
Autism |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Autistic behavior |
Autism |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Autistic Disorder |
Autism |
Pubtator |
25228304, 30739909, 30819258 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autistic Disorder |
Autism |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Blepharoptosis |
Ptosis |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Brachycephaly |
Brachycephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
30739909 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
15831449 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
15831449 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Child Development Disorders, Pervasive |
Development Disorder |
GWASCAT_DG |
28540026 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of the 5th finger |
Camptodactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Abnormalities |
Congenital abnormalities |
Pubtator |
30819258 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus excavatum |
Congenital Pectus Excavatum |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depression Postpartum |
Major depressive disorder |
Pubtator |
27436265 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
27436265, 30739909, 31238879, 36593604 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes mellitus |
Pubtator |
25300295 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
17151600, 18351660, 25228304, 25533962, 27436265, 27479843, 28135719 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
BEFREE |
30819258, 30909959 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyssomnias |
Dyssomnia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exanthema |
Exanthema |
Pubtator |
29378768 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fibromatosis, Aggressive |
Fibromatosis |
BEFREE |
16440290 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
27436265 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Global developmental delay |
Developmental Delay |
GENOMICS_ENGLAND_DG |
30525188 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Heart Diseases |
Heart disease |
Pubtator |
36593604 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypersensitivity Delayed |
Hypersensitivity |
Pubtator |
29378768 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
25228304, 27436265, 29378768, 30739909, 30819258, 36593604 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
BEFREE |
27436265, 30819258, 30909959 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
30525188 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Learning Disabilities |
Learning disorders |
Pubtator |
30739909 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
15831449 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
BEFREE |
15831449 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation |
Mental retardation |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild Mental Retardation |
Mental retardation |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moderate intellectual disability |
Mental retardation |
BEFREE |
25228304 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Moderate intellectual disability |
Mental retardation |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Movement Disorders |
Movement Disorders |
CLINVAR_DG |
17151600, 18351660, 25228304, 25533962, 27436265, 27479843, 28135719 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement disorder |
Pubtator |
30819258 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nervous System Diseases |
Nervous system disease |
Pubtator |
30819258 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nodular fasciitis |
Nodular Fasciitis |
BEFREE |
16440290 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-specific syndromic intellectual disability |
Syndromic Mental Retardation |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Obsessive compulsive behavior |
Obsessive-Compulsive Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pervasive Development Disorder |
Autism spectrum disorder |
BEFREE |
25228304 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Plagiocephaly |
Plagiocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posteriorly rotated ear |
Posteriorly Rotated Ear |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Potocki-Lupski syndrome |
Potocki-Lupski Syndrome |
BEFREE |
30819258 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
GWASCAT_DG |
25056061, 26198764, 28540026, 29483656, 30285260, 31268507 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia |
Schizophrenia |
BEFREE |
28746715 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Schizophrenia |
Schizophrenia |
Pubtator |
28746715 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seizures |
Seizures |
Pubtator |
30739909 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sleep Disorders |
Sleep Disorders |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Smith-Magenis syndrome |
Smith-Magenis Syndrome |
BEFREE |
30819258, 30909959, 31014384 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Telomeric 22q13 Monosomy Syndrome |
22q13 monosomy syndrome |
Pubtator |
38002941 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |