| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Alopecia |
Alopecia |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Alopecia |
Alopecia |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
37848535 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Arteriosclerosis |
Arteriosclerosis |
BEFREE |
26318107 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atherosclerosis |
Atherosclerosis |
BEFREE |
26318107 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| B-Cell Lymphomas |
B-Cell Lymphoma |
BEFREE |
29805606 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
12771949, 17088907, 23023727, 24344014, 27637080, 28138250 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
17088907, 27637080 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
24344014, 39300116 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
26722413 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
25536614 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
22488244 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Squamous Cell |
Squamous cell carcinoma |
Pubtator |
31642613 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| cervical cancer |
Cervical Cancer |
BEFREE |
26935246, 28975991 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cervical Intraepithelial Neoplasia |
Cervical Intraepithelial Neoplasia |
BEFREE |
31642613 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cervix carcinoma |
Cervix carcinoma |
BEFREE |
26935246, 28975991 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chordoma |
Chordoma |
Pubtator |
27901492 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
17088907, 21820526, 23023727, 23108792 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic Neoplasms |
BEFREE |
17088907 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic Neoplasms |
LHGDN |
17088907 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic neoplasm |
Pubtator |
17088907 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
17088907 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
30340556, 30480076 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermatologic disorders |
Dermatologic Disorders |
BEFREE |
18462451 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Nephropathy |
Diabetic Nephropathy |
GWASCAT_DG |
21150874 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Dyschromatosis |
Dyschromatosis |
BEFREE |
25315659, 27659786 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Dyschromatosis |
Dyschromatosis |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Dyschromatosis symmetrica hereditaria 1 |
Dyschromatosis symmetrica hereditaria |
Pubtator |
25315659 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyschromatosis universalis hereditaria |
Dyschromatosis Universalis Hereditaria |
BEFREE |
18462451, 19570083, 23519333, 24224009, 26712430, 27885802, 28382689, 29940187 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Dyschromatosis universalis hereditaria |
Dyschromatosis symmetrica hereditaria |
Pubtator |
27885802, 28382689, 32174800, 34028087, 34174894, 37543808 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Dyschromatosis Universalis Hereditaria 1 |
Dyschromatosis Universalis Hereditaria |
UNIPROT_DG |
23333244, 26203640, 27659786, 27840890, 27885802, 29956681 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Dyschromatosis Universalis Hereditaria 1 |
Dyschromatosis Universalis Hereditaria |
GENOMICS_ENGLAND_DG |
27659786 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Dyschromatosis Universalis Hereditaria 1 |
Dyschromatosis Universalis Hereditaria |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Dyschromatosis Universalis Hereditaria 1 |
Dyschromatosis Universalis Hereditaria |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Dystrophia unguium |
Nail dystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
26424902, 31138780, 31421824 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glioma |
Glioma |
Pubtator |
26424902 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypopigmentation disorder |
Hypopigmentation Disorder |
BEFREE |
27659786 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratoderma, Palmoplantar |
Palmoplantar keratoderma |
BEFREE |
25315659 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratoderma, Palmoplantar |
Palmoplantar keratoderma |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Keratoderma, Palmoplantar |
Palmoplantar keratoderma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lentiginosis Profusa |
Lentiginosis Profusa |
ORPHANET_DG |
26203640 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| LEOPARD Syndrome |
LEOPARD Syndrome |
BEFREE |
27659786 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leprosy |
Leprosy |
Pubtator |
22238647 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
GWASCAT_DG |
27903959 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
25536614, 27178819, 28600143 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
22488244, 33122723 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
28975991 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
12771949, 17088907, 23023727, 24344014, 27637080, 28138250 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of liver |
Liver Cancer |
BEFREE |
25536614 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
22488244 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of skin |
Skin cancer |
BEFREE |
25315659 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
27178818, 29320755 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of thyroid |
Thyroid cancer |
BEFREE |
26722413 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
30443973 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of cervix |
Cervical Tumor |
BEFREE |
26935246, 28975991 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
17088907, 21820526, 23023727, 23108792 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
BEFREE |
12771949 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multinodular goiter |
Multinodular goiter |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
12771949, 17088907, 21820526, 23023727, 23108792, 24344014, 25315659, 26424902, 27178818, 28600143, 29320755, 29805606, 31138780, 31421824 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
Pubtator |
33172452 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
BEFREE |
23108792, 29805606 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome |
Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Disease Chronic Obstructive |
Chronic obstructive pulmonary disease |
Pubtator |
39300116 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rotator cuff syndrome |
Rotator cuff syndrome |
GWASCAT_DG |
26350878 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin carcinoma |
Skin Carcinoma |
BEFREE |
25315659 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Skin Neoplasms |
Skin neoplasm |
Pubtator |
25315659 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma |
Carcinoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
30443973 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
27178818, 29320755 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
27178818 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Symmetrical dyschromatosis of extremities |
Symmetrical Dyschromatosis Of Extremities |
BEFREE |
18462451, 26712430 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid carcinoma |
Thyroid Carcinoma |
BEFREE |
26722413 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasm |
Thyroid Neoplasm |
BEFREE |
26722413 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasms |
Thyroid cancer |
Pubtator |
26722413 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple Negative Breast Neoplasms |
BEFREE |
28918577 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Dysplasia |
Uterine disease |
Pubtator |
31642613 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
28975991 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |