| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Acrocephalopolydactylous Dysplasia |
Acrocephalopolydactyly |
GENOMICS_ENGLAND_DG |
18489042 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Albinism |
Albinism |
BEFREE |
25312756, 27931534 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Albinism |
Albinism |
Pubtator |
35488210 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Albinism Oculocutaneous |
Oculocutaneous albinism |
Pubtator |
25312756 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
21669283 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
BEFREE |
25431337 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bladder Neoplasm |
Bladder Neoplasm |
BEFREE |
22724020, 29088864 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
18337447, 20484105, 28928832, 30081925 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
18337447, 26178901, 34623384 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
22553406, 26305877, 34777698, 36303180 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of bladder |
Bladder carcinoma |
BEFREE |
22724020, 29088864 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choroideremia |
Choroideremia |
BEFREE |
15186776, 24358126, 7592656 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Choroideremia |
Choroideremia |
Pubtator |
15186776, 24358126 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognition disorder |
Pubtator |
21669283 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognitive Dysfunction |
Cognition disorder |
Pubtator |
21669283 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colitis Ulcerative |
Ulcerative colitis |
Pubtator |
37249278 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
26070933, 26384136, 26760980 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
26070933, 26760980, 36371494 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
30661368 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cystic Fibrosis |
Cystic Fibrosis |
BEFREE |
24934256 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cystic Fibrosis |
Cystic fibrosis |
Pubtator |
24934256 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cystinosis |
Cystinosis |
BEFREE |
23716592 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
28928832 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endocrine System Diseases |
Endocrine system disease |
Pubtator |
19212825 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eosinophilia |
Eosinophilia |
BEFREE |
18571497 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastritis, Atrophic |
Gastritis |
BEFREE |
20138039 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Diseases |
Gastrointestinal Diseases |
BEFREE |
30269844 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Generalized seizures |
Seizure |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
BEFREE |
23029308, 23553027, 30714141 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glioma |
Glioma |
Pubtator |
23029308, 23553027, 24587032 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glioma |
Glioma |
GWASCAT_DG |
30714141 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Griscelli syndrome type 1 |
Griscelli syndrome |
Pubtator |
11266474, 12058346, 15475639, 16551969, 18397837, 19030707, 21169636, 21314004, 25312756, 39807742 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Griscelli syndrome type 2 |
Griscelli syndrome |
Pubtator |
19030707, 19704116, 20591709, 21169636, 21314004, 24587032, 25312756, 33985578, 34058999, 35870028, 36206192, 37368332, 37388727 |
Associate |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Griscelli syndrome type 2 |
Griscelli Syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Griscelli syndrome type 3 |
Griscelli syndrome |
Pubtator |
18397837 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| GRISCELLI SYNDROME, TYPE 2 |
Griscelli syndrome |
GENOMICS_ENGLAND_DG |
10835631, 15163896 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GRISCELLI SYNDROME, TYPE 2 |
Griscelli syndrome |
CLINVAR_DG |
10835631, 15163896, 15475639, 16278825, 18397837, 19030707, 19953648, 23160464, 25071262, 25500851, 25544030, 26880764, 27016801 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GRISCELLI SYNDROME, TYPE 2 |
Griscelli syndrome |
UNIPROT_DG |
10835631, 12446441, 12531900, 15548590 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GRISCELLI SYNDROME, TYPE 2 |
Griscelli syndrome |
BEFREE |
12446441, 16278825, 18350256, 19030707, 19704116, 19953648, 20370853, 20591709, 21169636, 21314004, 22111599, 23810987, 24584932, 25312756, 28585352, 31233462 View all (1 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GRISCELLI SYNDROME, TYPE 2 |
Griscelli syndrome |
ORPHANET_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GRISCELLI SYNDROME, TYPE 2 |
Griscelli syndrome |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hemophagocytic lymphohistiocytosis familial 3 |
Hemophagocytic lymphohistiocytosis |
Pubtator |
19704116 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemophagocytic Syndrome |
Hemophagocytic Syndrome |
BEFREE |
10835631, 12058346, 15163896, 17255357, 19953648, 21169636 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hepatitis C |
Hepatitis c |
Pubtator |
26305877 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Histiocytosis haematophagic |
Histiocytosis Haematophagic |
BEFREE |
12522785 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Histiocytosis haematophagic |
Histiocytosis Haematophagic |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypereosinophilic Syndrome |
Hypereosinophilic syndrome |
Pubtator |
39679991 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperlipidemia |
Hyperlipidemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypopigmentation disorder |
Hypopigmentation Disorder |
BEFREE |
21314004, 22111599, 9066979 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypopigmentation disorder |
Hypopigmentation Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypopigmentation-immunodeficiency disease |
Hypopigmentation-Immunodeficiency Disease |
BEFREE |
10835631, 11266474, 11571516, 11796263, 12058346, 12122117, 12446441, 12522785, 12531900, 15163896, 16551969, 17088644, 18397837, 19030707, 19243575, 20591709, 22983416, 25312756 View all (3 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypopigmentation-immunodeficiency disease |
Hypopigmentation-Immunodeficiency Disease |
CLINVAR_DG |
10835631, 16551969, 18350256, 19953648, 26684649 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypopigmentation-immunodeficiency disease |
Hypopigmentation-Immunodeficiency Disease |
GENOMICS_ENGLAND_DG |
10835631 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immune System Diseases |
Immune system disease |
Pubtator |
12058346 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immune System Diseases |
Immune System Diseases |
BEFREE |
12446441, 20370853 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immune System Diseases |
Immune system disease |
Pubtator |
37388727 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immunologic Deficiency Syndromes |
Immunologic Deficiency Syndromes |
BEFREE |
12531900, 23810987 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immunologic Deficiency Syndromes |
Immunologic Deficiency Syndromes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
BEFREE |
21669283 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Juvenile arthritis |
Arthritis |
BEFREE |
18311812 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
BEFREE |
28816238 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
30220110 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
22553406, 29725020 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Cirrhosis |
Liver Cirrhosis |
BEFREE |
29725020 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus Systemic |
Systemic lupus erythematosus |
Pubtator |
34084162 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
26070933, 35985682 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
26760980 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphohistiocytosis Hemophagocytic |
Hemophagocytic lymphohistiocytosis |
Pubtator |
12058346, 17255357, 18311812, 21169636, 24916509, 25312756, 26880764, 28270454, 32542393, 34058999, 35870028, 37388727 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphohistiocytosis, Hemophagocytic |
Lymphohistiocytosis |
BEFREE |
10835631, 11571516, 12058346, 15163896, 17088644, 17255357, 18311812, 21169636, 22111599, 23160464, 23403622, 26880764 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphohistiocytosis, Hemophagocytic |
Lymphohistiocytosis |
LHGDN |
16278825, 18311812 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
Pubtator |
37388727 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
18337447, 20484105, 28928832, 30081925 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of pancreas |
Pancreatic cancer |
BEFREE |
28902788 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
28197629 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
28546229 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of urinary bladder |
Urinary bladder cancer |
BEFREE |
22724020, 29088864 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
27136744, 29088864, 29212243, 30081925 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
LHGDN |
18337447 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
BEFREE |
20484105 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| melanoma |
Melanoma |
BEFREE |
21129771, 22948084, 23921446, 25280339, 26387540, 30556600 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Melanoma |
Melanoma |
Pubtator |
21129771, 22948084, 23884313, 39596498, 40038749 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Microphthalmos |
Microphthalmos |
BEFREE |
31322203 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild cognitive disorder |
Cognitive disorder |
BEFREE |
21669283 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Muscular Dystrophies, Limb-Girdle |
Limb-Girdle Muscular Dystrophy |
LHGDN |
18832576 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
20083228, 22553406, 22865453, 26070933, 26384136, 26760980, 27136744, 28043921, 29212243, 30480360, 31519605 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nervous System Diseases |
Nervous system disease |
Pubtator |
20591709 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
15163896 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neutropenia |
Neutropenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
29212243, 30480360 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic carcinoma |
Pancreatic carcinoma |
BEFREE |
28902788 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Ductal Adenocarcinoma |
Pancreatic adenocarcinoma |
BEFREE |
28902788 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancytopenia |
Pancytopenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peritonitis |
Peritonitis |
Pubtator |
36581340 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Piebaldism |
Piebaldism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Platelet Storage Pool Deficiency |
Platelet Storage Pool Deficiency |
BEFREE |
9066979 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
28197629 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Proteinuria |
Proteinuria |
Pubtator |
26420894 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Distress Syndrome |
Respiratory Distress Syndrome |
BEFREE |
31394948 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Distress Syndrome, Adult |
Respiratory Distress Syndrome |
BEFREE |
31394948 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Distress Syndrome, Newborn |
Congenital alveolar dysplasia |
BEFREE |
31394948 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhinitis Allergic |
Rhinitis |
Pubtator |
39679991 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma Alveolar Soft Part |
Sarcoma |
Pubtator |
37029109 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
37685910 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
28546229 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
28546229, 35985682 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Systemic onset juvenile chronic arthritis |
Arthritis |
BEFREE |
18311812 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple Negative Breast Neoplasms |
BEFREE |
27364572 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
22724020 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| X-Linked Lymphoproliferative Disorder |
Lymphoproliferative Syndrome, X-Linked |
BEFREE |
17088644 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |