| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Agenesis of corpus callosum |
Agenesis Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anaplastic thyroid carcinoma |
Anaplastic thyroid cancer |
BEFREE |
31368081 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aniridia |
Aniridia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
26080928 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Abnormalities |
Cardiovascular Abnormalities |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
28496335 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
37340282 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital chromosomal disease |
Congenital Chromosomal Disease |
BEFREE |
30344923 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital diaphragmatic hernia |
Congenital diaphragmatic hernia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of penis |
Congenital Hypoplasia Of Penis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cutis marmorata telangiectatica congenita |
Cutis marmorata telangiectatica congenita |
Pubtator |
35700413 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Nephropathies |
Diabetic neuropathy |
Pubtator |
36444934 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
BEFREE |
23805197 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
23805197 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hernia, Femoral |
Hernia, Femoral |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperinsulinism |
Hyperinsulinism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertensive disease |
Hypertension |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Interrupted aortic arch |
Interrupted aortic arch |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intestinal Volvulus |
Intestinal Volvulus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
31331910 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver neoplasms |
Liver neoplasms |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Long narrow head |
Dolichocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung Neoplasms |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrocephaly |
Macrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of liver |
Liver Cancer |
BEFREE |
31331910 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
22306653, 30638126 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
25018051, 29950491 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephroblastoma |
Nephroblastoma |
BEFREE |
22306653, 23594738, 29950491, 30344923 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Nephroblastoma |
Nephroblastoma |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Nephroblastoma |
Nephroblastoma |
ORPHANET_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Nephroblastoma |
Nephroblastoma |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Nephroblastoma |
Nephroblastoma |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor |
Perlman syndrome |
GENOMICS_ENGLAND_DG |
10508986, 22306653, 28328139 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor |
Perlman syndrome |
BEFREE |
22306653, 23486540, 23594738, 23613427, 26809675, 27431325, 28328139, 30068702, 30275517, 30638126 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor |
Perlman syndrome |
ORPHANET_DG |
22306653 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor |
Perlman syndrome |
CTD_human_DG |
22306653 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor |
Perlman syndrome |
UNIPROT_DG |
22306653, 23486540, 23613427, 28328139 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor |
Perlman syndrome |
CLINGEN_DG |
22306653, 23486540, 28328139, 29950491 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor |
Perlman syndrome |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Perlman syndrome |
Perlman Syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Posteriorly rotated ear |
Posteriorly Rotated Ear |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Specific learning disability |
Specific Learning Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Status Epilepticus |
Status Epilepticus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strawberry nevus of skin |
Strawberry Nevus Of Skin |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Wilms Tumor |
Wilms tumor |
Pubtator |
35230882, 35700413, 40340749 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |