| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Alzheimer`s Disease |
Alzheimer disease |
GWASDB_DG |
23535033 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer`s Disease |
Alzheimer disease |
GWASCAT_DG |
23535033 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Septal Defects |
Atrial Septal Defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
GWASCAT_DG |
18839057 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
GWASDB_DG |
18839057 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Autosomal recessive omodysplasia |
Omodysplasia |
Orphanet |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Blepharophimosis |
Blepharophimosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases Developmental |
Bone disease |
Pubtator |
30982611 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases, Developmental |
Bone Disease |
BEFREE |
30982611 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
21871017 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
21871017, 24357546, 35265226 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Endometrioid |
Endometrioid carcinoma |
Pubtator |
26399219 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Ovarian Epithelial |
Epithelial ovarian carcinoma |
Pubtator |
26399219 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Ovarian Epithelial |
Ovarian Epithelial carcinoma |
BEFREE |
26399219 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular Diseases |
BEFREE |
28393221 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular disease |
Pubtator |
28393221 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
24811787 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital exomphalos |
Congenital Exomphalos |
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 |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
36182916 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epidermolysis Bullosa Dystrophica |
Dystrophic epidermolysis bullosa |
Pubtator |
16185268 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epithelial ovarian cancer |
Ovarian cancer |
BEFREE |
26399219 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Defects Congenital |
Congenital heart defect |
Pubtator |
28393221 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemangioma |
Hemangioma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intervertebral Disc Degeneration |
Intervertebral Disc Degeneration |
GWASCAT_DG |
22993228 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intervertebral Disc Degeneration |
Intervertebral Disc Degeneration |
GWASDB_DG |
22993228 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intervertebral Disc Displacement |
Intervertebral disc displacement |
Pubtator |
31111662 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Limb Deformities, Congenital |
Congenital anomaly of limb |
CTD_human_DG |
19481194 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
21871017 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
24811787 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
28168807, 31199813 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
31199813 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma Cutaneous Malignant |
Melanoma |
Pubtator |
31199813 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesomelia |
Mesomelia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metastatic melanoma |
Metastatic Melanoma |
BEFREE |
31199813 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micromelia |
Micromelia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple sclerosis |
Pubtator |
32398079 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasodigitoacoustic syndrome |
Nasodigitoacoustic Syndrome |
BEFREE |
30982611 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasodigitoacoustic syndrome |
Nasodigitoacoustic syndrome |
Pubtator |
30982611 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
31199813 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurotic Disorders |
Neurotic Disorders |
GWASCAT_DG |
20634892 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NEUROTICISM |
Neuroticism |
BEFREE |
20634892 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NEUROTICISM |
Neuroticism |
GWASDB_DG |
20634892 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Omodysplasia type 1 |
Omodysplasia |
CTD_human_DG |
19481194 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Omodysplasia type 1 |
Omodysplasia |
GENOMICS_ENGLAND_DG |
19481194 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Omodysplasia type 1 |
Omodysplasia |
ORPHANET_DG |
19481194 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Omodysplasia type 1 |
Omodysplasia |
BEFREE |
24458798 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Omodysplasia type 1 |
Omodysplasia |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteoporosis |
Osteoporosis |
BEFREE |
28869591, 29794560, 30980960 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteoporosis |
Osteoporosis |
CTD_human_DG |
28869591 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteoporosis, Age-Related |
Osteoporosis |
CTD_human_DG |
28869591 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoporosis, Senile |
Osteoporosis |
CTD_human_DG |
28869591 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Diseases |
Ovarian diseases |
Pubtator |
35295989 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
24804215, 26448945 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Post-Traumatic Osteoporosis |
Osteoporosis |
CTD_human_DG |
28869591 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posteriorly rotated ear |
Posteriorly Rotated Ear |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pterygium |
Pterygium |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinoblastoma |
Retinoblastoma |
BEFREE |
19726429 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhizomelia |
Rhizomelia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Schizophrenia |
Schizophrenia |
GWASCAT_DG |
26198764 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 |
Simpson-Golabi-Behmel Syndrome |
BEFREE |
23297043 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sporadic Retinoblastoma |
Retinoblastoma |
BEFREE |
19726429 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
32478377 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ventricular Septal Defects |
Ventricular septal defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |