| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Arthrogryposis |
Arthrogryposis multiplex congenita |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
GENOMICS_ENGLAND_DG |
21271645 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
UNIPROT_DG |
26633546 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
CTD_human_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Asthma |
Asthma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Septal Defects |
Atrial Septal Defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
35935324 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ciliopathies |
Ciliopathies |
BEFREE |
26908619 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
36611072 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Comedone |
Comedone |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Camptodactyly |
Congenital Camptodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of lung |
Pulmonary hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of thymus |
Congenital Hypoplasia Of Thymus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital omphalocele |
Congenital omphalocele |
HPO_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Coronary Artery Disease |
Coronary artery disease |
GWASCAT_DG |
29212778 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Dermatitis, Atopic |
Dermatitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
23665325 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
26956052 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
23665325 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hamartoma |
Hamartoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrops Fetalis |
Hydrops Fetalis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ichthyoses |
Ichthyosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| LETHAL CONGENITAL CONTRACTURE SYNDROME 10 |
Lethal Congenital Contracture Syndrome |
GENOMICS_ENGLAND_DG |
26908619 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LETHAL CONGENITAL CONTRACTURE SYNDROME 10 |
Lethal Congenital Contracture Syndrome |
ORPHANET_DG |
26908619 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LETHAL CONGENITAL CONTRACTURE SYNDROME 10 |
Lethal Congenital Contracture Syndrome |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LETHAL CONGENITAL CONTRACTURE SYNDROME 10 |
Lethal Congenital Contracture Syndrome |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
34051812 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
35935324 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
25131192, 29112787, 29472518 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
BEFREE |
29472518 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
29112787 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
29112787, 37558831 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Meningioma |
Meningioma |
BEFREE |
30594554 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Meningioma |
Meningioma |
Pubtator |
30594554 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NEK9-related lethal skeletal dysplasia |
Skeletal Dysplasia |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Neoplasms |
Neoplasms |
BEFREE |
26956052 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nevus comedonicus |
Nevus comedonicus |
BEFREE |
27153399 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nevus comedonicus |
Nevus comedonicus |
UNIPROT_DG |
27153399 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nevus comedonicus |
Nevus comedonicus |
ORPHANET_DG |
27153399 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nevus comedonicus |
Nevus comedonicus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nevus comedonicus |
Nevus comedonicus |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nevus comedonicus syndrome |
Nevus comedonicus |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Overriding aorta |
Overriding aorta |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pena-Shokeir syndrome type I |
Pena Shokeir syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Port-Wine Stain |
Phakomatosis pigmentovascularis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Stenosis |
Pulmonary Stenosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Radial polydactyly |
Radial Polydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spina Bifida Occulta |
Spina bifida occulta |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
37443302 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly of fingers |
Syndactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly of the toes |
Syndactyly Of The Toes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple Negative Breast Neoplasms |
BEFREE |
29472518 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Septal Defects |
Ventricular septal defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |