| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Aneuploidy |
Aneuploidy |
Pubtator |
22479651 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| B-Cell Lymphomas |
B-Cell Lymphoma |
BEFREE |
18367492 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
28428557 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
22479651 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
36443564, 40255404 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Pancreatic Ductal |
Pancreatic ductal carcinoma |
Pubtator |
38423594 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
34872567 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
Pubtator |
32196466 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular disease |
Pubtator |
21418584 |
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 |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
25634203 |
Inhibit |
★★★★★★☆☆☆☆ 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 chromosomal disease |
Congenital Chromosomal Disease |
BEFREE |
16261166 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital genu recurvatum |
Congenital genu recurvatum |
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 |
15286659 |
|
★★★★★★☆☆☆☆ 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, 30281379 |
|
★★★★★★☆☆☆☆ 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 |
CLINVAR_DG |
21358632, 22333897, 23023959 |
|
★★★★★★★☆☆☆ 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 |
ORPHANET_DG |
21358632, 23516378 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| EAR, PATELLA, SHORT STATURE SYNDROME |
Ear Diseases |
BEFREE |
29036220, 30281379 |
|
★★★★★★★☆☆☆ 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 |
| Fanconi Anemia |
Fanconi anemia |
Pubtator |
34404366 |
Associate |
★★★★★★☆☆☆☆ 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 |
| Hyperlipoproteinemia Type II |
Hyperlipoproteinemia |
Pubtator |
21418584 |
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 |
| Isodicentric Chromosome 15 Syndrome |
Isodicentric Chromosome 15 Syndrome |
BEFREE |
31014393 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
CTD_human_DG |
28284560 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lubs X-linked mental retardation syndrome |
Syndromic Mental Retardation, X-linked |
BEFREE |
25749076 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
37790630 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
38423594 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
28428557 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
15291814, 18084328, 18508524 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
LHGDN |
17029205 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mantle cell lymphoma |
Mantle Cell Lymphoma |
BEFREE |
17036332 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MEIER-GORLIN SYNDROME 4 |
Meier-Gorlin Syndrome |
GENOMICS_ENGLAND_DG |
15286659, 21358632 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| MEIER-GORLIN SYNDROME 4 |
Meier-Gorlin Syndrome |
UNIPROT_DG |
21358631, 21358632 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| MEIER-GORLIN SYNDROME 4 |
Meier-Gorlin Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| melanoma |
Melanoma |
BEFREE |
27974665 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Metabolic Syndrome |
Metabolic syndrome |
Pubtator |
19680237 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| 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 |
| Neoplasms |
Neoplasms |
BEFREE |
16261166, 24309437, 27721020, 27783255 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonorganic psychosis |
Nonorganic Psychosis |
BEFREE |
28601717, 29971958 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pelizaeus-Merzbacher Disease |
Pelizaeus-Merzbacher disease |
BEFREE |
25749076 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pituitary dwarfism 1 |
Pituitary dwarfism |
Pubtator |
23516378 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| PITUITARY DWARFISM I |
Pituitary dwarfism |
BEFREE |
30281379 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posteriorly rotated ear |
Posteriorly Rotated Ear |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Lymphoblastic Leukemia |
BEFREE |
16261166 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
21321528 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
35253732 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
35412947 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psychotic Disorders |
Psychosis |
BEFREE |
28601717, 29971958 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Emphysema |
Pulmonary Emphysema |
BEFREE |
22333897 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Failure |
Respiratory Failure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinoblastoma |
Retinoblastoma |
BEFREE |
30257992 |
|
★★★★★★☆☆☆☆ 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 |
| Squamous cell carcinoma of tongue |
Tongue carcinoma |
BEFREE |
19116018 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Submucous cleft of hard palate |
Submucosal cleft palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Temple syndrome |
Temple syndrome |
Pubtator |
31014393 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Dysplasia |
Uterine disease |
Pubtator |
34404366 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
34404366 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Xanthomatosis |
Xanthomatosis |
Pubtator |
21418584 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Xeroderma Pigmentosum |
Xeroderma pigmentosum |
Pubtator |
20929861 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |