| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Adenocarcinoma of prostate |
Prostate adenocarcinoma |
BEFREE |
30910347 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia |
Anemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aniridia |
Aniridia |
BEFREE |
27124303 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aniridia cerebellar ataxia mental deficiency |
Aniridia-cerebellar ataxia-intellectual disability syndrome |
Pubtator |
27124303 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorder |
Autism |
Pubtator |
30487643, 31649809 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autism Spectrum Disorders |
Autism Spectrum Disorder |
BEFREE |
30487643, 31649809 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autistic Disorder |
Autism |
Pubtator |
31649809 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachycephaly |
Brachycephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Ovarian Epithelial |
Ovarian Epithelial carcinoma |
CTD_human_DG |
28811376 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Chromosome 11p11.2 Deletion Syndrome |
11p11.2 Deletion Syndrome |
BEFREE |
22770980, 23239541, 28127865, 28571721, 30487643 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Chromosome 11p11.2 Deletion Syndrome |
11p11.2 Deletion Syndrome |
ORPHANET_DG |
22770980 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Chromosome 11p11.2 Deletion Syndrome |
11p11.2 Deletion Syndrome |
GENOMICS_ENGLAND_DG |
30487643 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
38167072 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Abnormalities |
Congenital abnormalities |
Pubtator |
36555772 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniofacial Abnormalities |
Craniofacial abnormalities |
Pubtator |
28571721, 30487643, 31649809, 36555772 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Defect of skull ossification |
Defect Of Skull Ossification |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Degenerative polyarthritis |
Arthritis |
BEFREE |
31523167 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
30487643, 31649809, 36555772 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
29362722 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
29362722 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
26333423 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypothyroidism |
Hypothyroidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
22770980, 23239541, 27124303, 28127865, 28571721, 30487643, 31649809 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
27124303, 28571721, 30487643, 31649809, 36555772 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
GENOMICS_ENGLAND_DG |
30487643 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
30910347 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
30910347 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephroblastoma |
Nephroblastoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
BEFREE |
26077434 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoarthritis |
Osteoarthritis |
Pubtator |
31523167 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| PARIETAL FORAMINA |
Parietal Foramina |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| PEELING SKIN SYNDROME |
Peeling Skin Syndrome |
GENOMICS_ENGLAND_DG |
30487643 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Penis agenesis |
Penis Agenesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pervasive Development Disorder |
Autism spectrum disorder |
BEFREE |
30487643, 31649809 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Potocki-Shaffer syndrome |
Potocki-Shaffer Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
30910347 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pseudohypoparathyroidism |
Pseudohypoparathyroidism |
Pubtator |
36555772 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly |
Syndactyly |
BEFREE |
31649809 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly |
Syndactyly |
Pubtator |
31649809 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Systemic Scleroderma |
Scleroderma |
GENOMICS_ENGLAND_DG |
30487643 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |