| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
35886011, 38104894 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bronchomalacia |
Bronchomalacia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
36205357 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
37901236, 40255404 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic myeloproliferative disorder |
Myeloproliferative disorder |
GENOMICS_ENGLAND_DG |
21358632 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of the 5th finger |
Camptodactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
19112505 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic Neoplasms |
LHGDN |
19112505 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
19112505, 37096556 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital absence of breast |
Breast aplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital absence of external ear |
Anotia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital absence of mandible |
Mandibular aplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of breast |
Breast hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of penis |
Congenital Hypoplasia Of Penis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital small ears |
Microtia |
GENOMICS_ENGLAND_DG |
7710253 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital small ears |
Microtia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis |
Craniosynostosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
BEFREE |
29036220 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ear Diseases |
Ear disease |
Pubtator |
23516378 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| EAR, PATELLA, SHORT STATURE SYNDROME |
Ear Diseases |
ORPHANET_DG |
21358632, 23516378 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| EAR, PATELLA, SHORT STATURE SYNDROME |
Ear Diseases |
CTD_human_DG |
21358632 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| EAR, PATELLA, SHORT STATURE SYNDROME |
Ear Diseases |
BEFREE |
24137536, 25691413, 26139588, 29036220 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ear-patella-short stature syndrome |
Ear-Patella-Short Stature Syndrome |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epispadias |
Epispadias |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroesophageal reflux disease |
Gastroesophageal Reflux Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
Pubtator |
37901236 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
21358632 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrophy of clitoris |
Hypertrophy Of Clitoris |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of the maxilla |
Hypoplasia of the maxilla |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypospadias |
Hypospadias |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Jeune syndrome |
Jeune syndrome |
Pubtator |
36012502 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Laryngomalacia |
Laryngomalacia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
19112505 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
19112505 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MEIER-GORLIN SYNDROME 3 |
Meier-Gorlin Syndrome |
UNIPROT_DG |
21358632 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| MEIER-GORLIN SYNDROME 3 |
Meier-Gorlin Syndrome |
GENOMICS_ENGLAND_DG |
21358632, 26381604, 7710253 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| MEIER-GORLIN SYNDROME 3 |
Meier-Gorlin Syndrome |
CLINVAR_DG |
22333897 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microstomia |
Microstomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MUNGAN SYNDROME |
MUNGAN SYNDROME |
BEFREE |
26139588 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Penis agenesis |
Penis Agenesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posteriorly rotated ear |
Posteriorly Rotated Ear |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
36978046 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Failure |
Respiratory Failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seckel syndrome |
Seckel Syndrome |
GENOMICS_ENGLAND_DG |
21358632 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Specific learning disability |
Specific Learning Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Submucous cleft of hard palate |
Submucosal cleft palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tracheomalacia |
Tracheomalacia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |