| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| ACTIVATED PI3K-DELTA SYNDROME |
ACTIVATED PI3K-DELTA SYNDROME |
ORPHANET_DG |
25133428 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Activated PI3K-delta syndrome |
ACTIVATED PI3K-DELTA SYNDROME |
Orphanet |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| ACTIVATED PI3K-DELTA SYNDROME |
ACTIVATED PI3K-DELTA SYNDROME |
BEFREE |
27116393, 27616589, 28167755 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Adenocarcinoma |
Adenocarcinoma |
BEFREE |
1310887 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenocarcinoma of large intestine |
Colorectal Cancer |
CGI_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adult Hodgkin Lymphoma |
Hodgkin Lymphoma |
BEFREE |
21077741 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| African Burkitt`s lymphoma |
African Burkitt`s Lymphoma |
CTD_human_DG |
23143597 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agammaglobulinemia |
Agammaglobulinemia |
BEFREE |
22351933 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agammaglobulinemia |
Agammaglobulinemia |
Pubtator |
25133428 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agammaglobulinemia |
Agammaglobulinemia |
GENOMICS_ENGLAND_DG |
25488983 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Agammaglobulinemia |
Agammaglobulinemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE |
Agammaglobulinemia |
CLINVAR_DG |
22351933, 23810378, 23810379, 23810382, 23980586, 24886349, 25133428, 25326637, 25488983, 26529633, 26974159, 27766312, 28632845 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE |
Agammaglobulinemia |
GENOMICS_ENGLAND_DG |
22351933, 25488983 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE |
Agammaglobulinemia |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Agammaglobulinemia, non-Bruton type |
Agammaglobulinemia |
ORPHANET_DG |
22351933 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alagille Syndrome |
Alagille syndrome |
Pubtator |
23810378 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alopecia |
Alopecia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
12185156, 16014629, 28558704, 32192109, 36530083 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer Disease, Late Onset |
Alzheimer disease |
BEFREE |
12185156 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ameloblastoma |
Ameloblastoma |
Pubtator |
32719259 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anaplastic carcinoma |
Anaplastic Carcinoma |
CTD_human_DG |
12606953 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Anemia Sickle Cell |
Sickle cell anemia |
Pubtator |
37012663 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Syndromic microphthalmia |
BEFREE |
22261810 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Argininosuccinic Aciduria |
Argininosuccinic aciduria |
Pubtator |
23807225 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis |
Arthritis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arthritis Rheumatoid |
Rheumatoid arthritis |
Pubtator |
11822409, 11879539, 12105209, 12115180, 12937131, 17101049, 18787303, 20187936 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Asthma |
Asthma |
BEFREE |
25871513 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astrocytoma |
Astrocytoma |
Pubtator |
12356354, 21263009, 26286747, 29016839, 37667984 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astrocytoma |
Astrocytoma |
BEFREE |
26286747 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ataxia Telangiectasia |
Ataxia telangiectasia |
Pubtator |
10222145, 10500142, 8659541 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autoimmune Diseases |
Autoimmune Diseases |
BEFREE |
26196376 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal agammaglobulinemia |
Agammaglobulinemia |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| B-Cell Lymphomas |
B-Cell Lymphoma |
BEFREE |
20888662 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bladder Neoplasm |
Bladder Neoplasm |
BEFREE |
24004856, 24367658, 31401412 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blood Coagulation Disorders |
Blood coagulation disorder |
Pubtator |
32626985 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blood Platelet Disorders |
Platelet disorder |
Pubtator |
10666407, 23243278, 39812346 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
28969385 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Neoplasms |
Brain Neoplasms |
CLINVAR_DG |
26619011 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Neoplasms |
Brain neoplasms |
Pubtator |
26722465 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
16579640, 23222510, 24229379, 26676464, 27314662, 28027535, 28394344, 28478612, 28630349, 29527004, 30128822, 31209687, 31660072, 31777591 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
10542266, 11328805, 11689575, 12048182, 12477728, 12771144, 14602723, 14704150, 15367412, 15846085, 16168140, 17121430, 17649772, 17690101, 17951403, 18625725, 18850006, 19055754, 19435893, 19435916, 19509421, 19661335, 20226014, 20569503, 20703095, 20836878, 21278786, 21362200, 21676217, 21726627, 22132754, 22460814, 23184205, 23301057, 23612454, 24175777, 24186142, 24229379, 24304721, 24618835, 24811890, 24981670, 25056500, 25488803, 25854340, 25878190, 25927147, 25928145, 26676464, 26840401, 27081168, 27155741, 27314662, 27581127, 27771839, 28478612, 29103666, 29115573, 29524295, 29636477, 30287915, 30543347, 31391067, 31532771, 31554385, 32541902, 33541297, 33669698, 33816619, 33947930, 35122700, 35441778, 35589867, 36656380, 36934165, 37171324, 38531793, 39300389, 39780215, 40403210, 9774445 View all (66 more) |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
27314662 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brittle cornea syndrome 1 |
Brittle cornea syndrome |
Pubtator |
28143957, 29476696, 39735640 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bronchiectasis |
Bronchiectasis |
GENOMICS_ENGLAND_DG |
29556229 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bronchiectasis |
Bronchiectasis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Burkitt Leukemia |
Burkitt`s Lymphoma |
CTD_human_DG |
23143597 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Burkitt Lymphoma |
Burkitt`s Lymphoma |
CTD_human_DG |
23143597 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Burkitt Lymphoma |
Burkitt lymphoma |
Pubtator |
23143597, 29669863 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinogenesis |
Carcinogenesis |
Pubtator |
15353558, 18831514, 20173732, 20664599, 22146979, 24098937, 24132918, 24423924, 29636477, 30536312 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoid Tumor |
Carcinoid tumor |
Pubtator |
19588205, 19651067 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma |
Carcinoma |
CTD_human_DG |
12606953 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Carcinoma |
Carcinoma |
Pubtator |
17823122 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Carcinoma |
Carcinoma |
BEFREE |
27738081, 29946183 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Carcinoma Basal Cell |
Basal cell carcinoma |
Pubtator |
15610530, 19055754, 36788083 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Ductal |
Ductal carcinoma |
Pubtator |
23609359 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Endometrioid |
Endometrioid carcinoma |
Pubtator |
26045339, 40462124 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
10438468, 12896980, 24103747, 24135379, 24223153, 24556693, 25091573, 26045814, 27918554, 28347229, 29208003, 29970718, 30497511, 32271415, 33929972, 34708625, 35383533, 35412944, 35436411, 35610614, 36062301 View all (6 more) |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Hepatocellular |
Hepatocellular carcinoma |
Pubtator |
17609269 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma in Situ |
Carcinoma in situ |
Pubtator |
31734230 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Intraductal Noninfiltrating |
Intraductal noninfiltrating carcinoma |
Pubtator |
26718977 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Lobular |
Lobular carcinoma |
Pubtator |
25601220 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Merkel Cell |
Merkel cell carcinoma |
Pubtator |
26981779 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of bladder |
Bladder carcinoma |
BEFREE |
24004856, 24367658, 31401412 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of larynx |
Laryngeal carcinoma |
BEFREE |
27002759 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of lung |
Lung carcinoma |
BEFREE |
1310887, 23980150 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Ovarian Epithelial |
Epithelial ovarian carcinoma |
Pubtator |
34162426 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Pancreatic Ductal |
Pancreatic ductal carcinoma |
Pubtator |
22261810, 25846727, 35887266 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
21834980, 25784113, 28718916, 29506494, 37024452 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Renal Cell |
Renal cell carcinoma |
Pubtator |
25757764 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Squamous Cell |
Squamous cell carcinoma |
Pubtator |
21986939, 31035650, 32991423 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma, Spindle-Cell |
Carcinoma |
CTD_human_DG |
12606953 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinosarcoma |
Carcinoma |
Pubtator |
25233892 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy Dilated |
Dilated cardiomyopathy |
Pubtator |
33015184 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy Hypertrophic |
Hypertrophic cardiomyopathy |
Pubtator |
12796566 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy, Familial Idiopathic |
Cardiomyopathy |
BEFREE |
23609359 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiovascular Diseases |
Cardiovascular disease |
Pubtator |
29893513, 34077942 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carnitine Palmitoyltransferase II Deficiency Infantile |
Carnitine palmitoyltransferase deficiency |
Pubtator |
28566443 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cartilage Diseases |
Cartilage disease |
Pubtator |
27701424, 32322000 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral Infarction |
Ischemic stroke |
Pubtator |
31894261, 32626985, 38013375 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cholangiocarcinoma |
Cholangiocarcinoma |
Pubtator |
23832540 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Chronic Lymphocytic Leukemia |
Lymphocytic Leukemia |
BEFREE |
22623730 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Chronic otitis media |
Otitis media |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cleft Palate |
Cleft palate |
Pubtator |
26795696 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly |
Clinodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of fingers |
Clinodactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cognition Disorders |
Cognition disorder |
Pubtator |
36530083 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colitis |
Colitis |
BEFREE |
22351933 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colitis Ulcerative |
Ulcerative colitis |
Pubtator |
29794741, 36232773 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
18245521, 25314071, 26864651, 7541019 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colonic Neoplasms |
Colonic neoplasm |
Pubtator |
28714374 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
23990352, 30675279, 31217502 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
12140294, 16150444, 16543245, 18064605, 18663744, 19018265, 19351759, 19596916, 20421047, 21909943, 21978709, 22026957, 22710713, 22851869, 23594372, 23624914, 23992303, 25314071, 27350731, 28107519, 28714374, 28936923, 29693170, 29740162, 30481508, 31125260, 31127692, 32925795, 35294319, 35505597, 35586809, 36183698, 36303457, 36497132, 37100467 View all (20 more) |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal Neoplasms |
CLINVAR_DG |
26619011 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Combined immunodeficiency |
Severe combined immunodeficiency disease |
GENOMICS_ENGLAND_DG |
25488983 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Common Variable Immunodeficiency |
Common variable immunodeficiency |
Pubtator |
35990641 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital bilateral aplasia of vas deferens |
Congenital bilateral absence of vas deferens |
Pubtator |
32054096 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital disorder of glycosylation type 1L |
Congenital disorder of glycosylation |
Pubtator |
9821957 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital keratoglobus |
Congenital Keratoglobus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conjunctivitis |
Conjunctivitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conventional (Clear Cell) Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
25757764, 29288416 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronary Artery Disease |
Coronary artery disease |
Pubtator |
30844764 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cutaneous Melanoma |
Melanoma |
CLINVAR_DG |
26619011 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Degenerative polyarthritis |
Arthritis |
BEFREE |
26972586 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive Disorder |
Major depressive disorder |
Pubtator |
28143957, 29476696 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
BEFREE |
29476696 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dermatitis, Atopic |
Dermatitis |
BEFREE |
24452877 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes |
Diabetes |
BEFREE |
14551916 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Gestational |
Gestational diabetes |
Pubtator |
22893718, 24507683, 30805369, 35613088 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Gestational |
Gestational diabetes |
Pubtator |
39684804 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
BEFREE |
14551916 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes mellitus |
Pubtator |
14551916, 23810378, 37522815, 40420664 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus |
Diabetes Mellitus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 1 |
Diabetes mellitus, type 1 |
Pubtator |
36303457, 39464889 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus Type 2 |
Diabetes mellitus, type 2 |
Pubtator |
12185156, 14551916, 19581418, 23133645, 29893513, 33149760, 36504295, 38003949 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetes Mellitus, Non-Insulin-Dependent |
Diabetes Mellitus |
BEFREE |
10768097, 12185156, 15127203, 15523593, 28386332, 29893513 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Diabetic Nephropathies |
Diabetic neuropathy |
Pubtator |
38374020 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Nephropathy |
Diabetic Nephropathy |
BEFREE |
25754093 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Diabetic Retinopathy |
Diabetic retinopathy |
Pubtator |
38194422 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Duane Retraction Syndrome |
Duane retraction syndrome |
Pubtator |
11483649 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
BEFREE |
28143957, 28632845, 29476696 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dyslipidemias |
Dyslipidemias |
BEFREE |
27766312, 30212470 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 |
Ectrodactyly |
BEFREE |
21478295, 25701704, 26374646 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Eczema |
Eczema |
BEFREE |
24452877 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endocrine System Diseases |
Endocrine system disease |
Pubtator |
24467828 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Carcinoma |
Endometrial carcinoma |
BEFREE |
21478295, 21984976, 22146979, 22586352, 23674493, 26626801, 29636360 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Neoplasms |
Endometrial neoplasm |
Pubtator |
17213663, 19154413, 19261849, 19878980, 20681032, 21478295, 21816851, 21984976, 22146979, 23028188, 23674493, 26825822, 28485815, 31527078, 31880826, 32652986, 33577023, 34831139, 35108035, 35365770, 37567170, 37730563 View all (7 more) |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometrial Neoplasms |
Endometrial Neoplasms |
BEFREE |
24573554 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometriosis |
Endometriosis |
Pubtator |
35124383 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Endometriosis |
Endometriosis |
Pubtator |
35285386 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epidermolysis Bullosa Simplex |
Epidermolysis bullosa |
Pubtator |
34536484 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Erythrocytosis familial, 1 |
Erythrocytosis |
BEFREE |
19336760 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Neoplasms |
Esophageal neoplasm |
Pubtator |
27893424 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Esophageal Squamous Cell Carcinoma |
Esophageal squamous cell carcinoma |
Pubtator |
25337715, 27893424 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Fatty Liver Disease |
Fatty Liver |
BEFREE |
20888662 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gallbladder Neoplasms |
Gallbladder neoplasm |
Pubtator |
26947513, 32925281 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Diseases |
Gastrointestinal disease |
Pubtator |
36906972 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Neoplasms |
Gastrointestinal neoplasm |
Pubtator |
32863943 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastrointestinal Stromal Tumors |
Gastrointestinal stromal tumor |
Pubtator |
18521081 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| GATA2 Deficiency |
Gata2 deficiency |
Pubtator |
32321919 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
Pubtator |
31680442 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma |
Glaucoma |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
14655756, 14701753, 15605984, 18260157, 18772890, 19458076, 20935218, 21419810, 21430111, 21649900, 22064833, 22156546, 23166678, 24378652, 26125228, 27065332, 27871300, 28320338, 29949238, 30053126, 30861589, 31290679, 31726966, 33313992, 34784707, 35087132, 35368876 View all (12 more) |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
15605984, 18328427, 18772890, 23166678 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
LHGDN |
18328427 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
CLINVAR_DG |
26619011 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
15605984, 18328427, 18772890, 22064833, 23166678 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glioblastoma Multiforme |
Glioblastoma |
CGI_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glioma |
Glioma |
Pubtator |
11238734, 16170333, 19671762, 19894763, 21419810, 23727752, 26151295, 26699864, 27633132, 27852048, 28759109, 30296359, 31036078, 33942853, 34106407, 37524847, 39780215 View all (2 more) |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glioma |
Glioma |
BEFREE |
27852048, 30715630 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Glioma |
Glioma |
CGI_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Global developmental delay |
Developmental Delay |
BEFREE |
29953879 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glucocorticoid Receptor Deficiency |
Glucocorticoid receptor deficiency/resistance |
Pubtator |
21828034 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Growth Disorders |
Growth disorder |
Pubtator |
23810378, 23810379, 27076228, 28143957, 29476696, 33129256, 39735640, 40420664 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Head and Neck Carcinoma |
Head And Neck Carcinoma |
BEFREE |
29496059 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Head and Neck Neoplasms |
Head and neck neoplasm |
Pubtator |
23408298, 28476872, 30556200 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heart Failure |
Heart failure |
Pubtator |
37092838 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemangiosarcoma |
Hemangiosarcoma |
Pubtator |
31305404, 32123305 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematologic Diseases |
Hematologic disease |
Pubtator |
36906972 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematologic Neoplasms |
Hematologic neoplasm |
Pubtator |
16645590 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemimegalencephaly |
Hemimegalencephaly |
Pubtator |
22729223 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hepatoblastoma |
Hepatoblastoma |
Pubtator |
17072986, 31541079 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Angioedema Type III |
Hereditary angioedema |
Pubtator |
17616457 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Breast and Ovarian Cancer Syndrome |
Hereditary breast and ovarian cancer syndrome |
Pubtator |
22460814, 23895914, 24186142, 26577839 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary gingival fibromatosis |
Hereditary Gingival Fibromatosis |
BEFREE |
28205613 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hodgkin Disease |
Hodgkin Disease |
BEFREE |
11986952, 21077741 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hodgkin Disease |
Hodgkin disease |
Pubtator |
16412023 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyper-IgM Immunodeficiency Syndrome, Type 1 |
Hyper-IgM Immunodeficiency Syndrome |
BEFREE |
27076228, 30799802 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperglycemia |
Hyperglycemia |
Pubtator |
15964918, 28727815 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperglycemia |
Hyperglycemia |
BEFREE |
23316693, 28386332, 28727815 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperglycemia |
Hyperglycemia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperimmunoglobulin M syndrome |
Hyperimmunoglobulin M Syndrome |
BEFREE |
27076228, 30799802 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperlipidemia |
Hyperlipidemia |
BEFREE |
31658172 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypersplenism |
Hypersplenism |
BEFREE |
20846792 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertension |
Hypertension |
Pubtator |
32888289, 37561089 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypodontia |
Hypodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypogammaglobulinemia |
Hypogammaglobulinemia |
BEFREE |
26529633, 27693481 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of iris |
Hypoplasia Of Iris |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypotrichosis |
Hypotrichosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoxia |
Hypoxia |
Pubtator |
12764143, 15802268, 19349275, 29898734 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoxia |
Hypoxia |
Pubtator |
16543245, 17158959 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immune System Diseases |
Immune system disease |
Pubtator |
27076228, 35080319, 35486341, 39620215 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| IMMUNODEFICIENCY 36 |
Immunodeficiency |
CLINVAR_DG |
22351933, 23810378, 23810379, 23810382, 23980586, 24886349, 25133428, 25326637, 25488983, 26529633, 26974159, 27766312, 28632845 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| IMMUNODEFICIENCY 36 |
Immunodeficiency |
GENOMICS_ENGLAND_DG |
25488983, 29556229 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| IMMUNODEFICIENCY 36 |
Immunodeficiency |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Immunologic Deficiency Syndromes |
Immunologic Deficiency Syndromes |
BEFREE |
25133419 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Immunologic Deficiency Syndromes |
Immunologic Deficiency Syndromes |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infertility |
Infertility |
Pubtator |
36303457 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infertility Female |
Female infertility |
Pubtator |
36608061 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Insulin Resistance |
Diabetes mellitus, type 2 |
Pubtator |
11707433, 12185156, 15339744, 19581418, 23810378, 29476696, 29893513, 31389668, 33742773, 35110500, 36504295, 39735640, 40420664, 9486982 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Insulin-resistant diabetes mellitus |
Insulin-resistant diabetes mellitus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ischemic stroke |
Ischemic Stroke |
BEFREE |
31715311 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Juvenile Myelomonocytic Leukemia |
Myelomonocytic Leukemia |
BEFREE |
24469048 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Kidney Neoplasms |
Kidney neoplasm |
Pubtator |
25757764, 28713889, 28829506, 39780215 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Laryngeal Neoplasms |
Laryngeal neoplasm |
Pubtator |
27002759, 36033826 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leiomyoma |
Leiomyoma |
Pubtator |
19464003 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia |
Leukemia |
Pubtator |
12855588, 17949889, 19375649, 19406989, 21789382, 28596424, 28704451, 30185437 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| leukemia |
Leukemia |
BEFREE |
25299784 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Hairy Cell |
Hairy cell leukemia |
Pubtator |
26941398 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia Myeloid Acute |
Myeloid leukemia |
Pubtator |
17878402, 19805619, 20811632, 24189654, 24935396, 26941398, 28008177, 30760869, 32993794, 35240791, 37689825 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leukemia, Myelocytic, Acute |
Leukemia |
BEFREE |
24189654 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipid Metabolism Disorders |
Lipid Metabolism Disorders |
BEFREE |
28292967 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipoatrophy |
Lipoatrophy |
BEFREE |
23810378, 24033310, 31583022 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipoatrophy |
Lipoatrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipodystrophy |
Lipodystrophy |
BEFREE |
23810378, 23810379, 24033310, 31583022 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipodystrophy |
Lipodystrophy |
Pubtator |
23810379 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipodystrophy |
Lipodystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipodystrophy Familial Partial |
Lipodystrophy |
Pubtator |
23810379 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
LHGDN |
17486587 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver carcinoma |
Liver carcinoma |
BEFREE |
25475121, 25962360, 30497511, 30561038 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Cirrhosis Biliary |
Liver cirrhosis |
Pubtator |
17599743 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Liver Diseases |
Liver disease |
Pubtator |
27458792 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Diseases |
Lung disease |
Pubtator |
29328793 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lung Neoplasms |
Lung neoplasms |
Pubtator |
12714585, 17032498, 19483050, 20375364, 24533074, 30485130, 34390443 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lupus Erythematosus Systemic |
Systemic lupus erythematosus |
Pubtator |
25989537 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphatic Metastasis |
Lymphatic metastasis |
Pubtator |
26637226 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphedema |
Lymphedema |
Pubtator |
34040190, 34887309 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma |
Lymphoma |
Pubtator |
16946303, 23603894, 39735560 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Lymphoma Follicular |
Lymphoma |
Pubtator |
16912221, 19321861 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoma Primary Cutaneous Anaplastic Large Cell |
Primary cutaneous anaplastic large cell lymphoma |
Pubtator |
34382383 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphopenia |
Lymphopenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoproliferative Disorders |
Lymphoproliferative syndrome |
Pubtator |
11815622, 32321919 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lymphoproliferative Disorders |
Lymphoproliferative Disorder |
BEFREE |
11986952 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Macrotia |
Macrotia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malabsorption Syndrome |
Malabsorption Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Glioma |
Glioma |
BEFREE |
9538131 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Head and Neck Neoplasm |
Head and neck cancer |
BEFREE |
29496059 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
23222510, 24229379, 26676464, 27314662, 28027535, 28394344, 28478612, 28630349, 29527004, 30128822, 31209687, 31660072, 31777591 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of endometrium |
Endometrial Cancer |
BEFREE |
21478295, 21984976, 22146979, 22586352, 26626801, 29636360 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of kidney |
Kidney Cancer |
BEFREE |
28829506, 29288416 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of larynx |
Larynx cancer |
BEFREE |
27002759 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of liver |
Liver Cancer |
BEFREE |
20530665 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of lung |
Lung Cancer |
BEFREE |
1310887, 23980150 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of ovary |
Ovarian cancer |
BEFREE |
30630630 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of ovary |
Ovarian cancer |
CGI_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
20407443, 28012929, 28614092, 28676490, 31428587 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
CTD_human_DG |
29610475, 29662167 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of stomach |
Stomach Neoplasms |
BEFREE |
30927924 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of urinary bladder |
Urinary bladder cancer |
BEFREE |
24004856, 24367658, 31401412 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
11606375, 16131837, 18245521, 21984976, 23270540, 23619167, 24004856, 24367658, 24459181, 26565021, 26657142, 27633132, 27827005, 28143957, 28351303, 28630349, 28743532, 29174369, 29246942, 29616047, 30497511, 30650664, 30755611, 30961830, 31209687, 31635307 View all (11 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
CGI_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
18245521, 25314071, 26864651 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Uterine Corpus Neoplasm |
Malignant Uterine Corpus Neoplasm |
CLINVAR_DG |
26619011 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
LHGDN |
14769856, 16168140, 17006756, 18990689 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mammary Neoplasms |
Mammary Neoplasms |
BEFREE |
28630349, 29527004 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Medulloblastoma |
Medulloblastoma |
Pubtator |
34635507 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Melanoma |
Melanoma |
Pubtator |
16815849, 19088048, 19383818, 21169255, 22589389, 22912864, 25956405, 26302068, 31980996, 33549048, 33744299, 34241580, 36303457, 8823367 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| melanoma |
Melanoma |
BEFREE |
25746038 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Meningioma |
Meningioma |
Pubtator |
27548314 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Depression |
Mental Depression |
BEFREE |
29476696 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesangial sclerosis diffuse |
Diffuse mesangial sclerosis |
Pubtator |
11918736 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesothelioma |
Mesothelioma |
BEFREE |
28223140 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mesothelioma Malignant |
Mesothelioma |
Pubtator |
18096084, 23817184 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Syndrome |
Metabolic syndrome |
Pubtator |
31677333 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Syndrome X |
Metabolic Syndrome |
BEFREE |
24555840 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
BEFREE |
26529633 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microdontia (disorder) |
Microdontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mood Disorders |
Mood disorder |
Pubtator |
23810378 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mood Disorders |
Mood Disorder |
BEFREE |
9857977 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mouth Neoplasms |
Mouth neoplasm |
Pubtator |
30556200, 31318643 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
Pubtator |
11751905, 12433678, 14717778, 15010462, 15319277, 16627469, 18499442, 19286672, 20709908, 23522020 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
BEFREE |
19286672 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple sclerosis |
Pubtator |
23469041 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myelodysplastic Syndromes |
Myelodysplastic syndrome |
Pubtator |
21789382 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myeloproliferative Disorders |
Myeloproliferative disorder |
Pubtator |
17440089 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasal Polyps |
Nasal polyp |
Pubtator |
32047813 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal Carcinoma |
Nasopharyngeal carcinoma |
Pubtator |
26581613, 29393436 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal carcinoma |
Nasopharyngeal Carcinoma |
BEFREE |
29409973, 30662656 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
16917505, 21221997, 21984976, 22064833, 22261810, 23166678, 26122737, 26676464, 26807692, 27130196, 27748875, 27827005, 28394344, 28630349, 29588411, 30442661, 30691859, 30755611, 30961830, 31209687, 31305404, 9538131 View all (7 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
CLINVAR_DG |
19962457, 24459181, 25157968 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephroblastoma |
Nephroblastoma |
BEFREE |
28326956 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
Pubtator |
10501184, 11228049, 11274155, 12000752, 17379415, 18281552, 19211844, 9414036 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neuroblastoma |
Neuroblastoma |
BEFREE |
23232578 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurofibromatosis 1 |
Neurofibromatosis |
Pubtator |
31730023 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurofibrosarcoma |
Neurofibrosarcoma |
Pubtator |
23434321 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neutropenia |
Neutropenia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Small Cell Lung Carcinoma |
Lung carcinoma |
BEFREE |
23728071, 24550137, 31402930 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
Pubtator |
27314662 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Obesity |
Obesity |
Pubtator |
29893513, 32599690 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ocular Hypotension |
Ocular hypotension |
Pubtator |
39735640 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oculocerebrorenal Syndrome |
Oculocerebrorenal syndrome |
Pubtator |
19011679 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteoarthritis |
Osteoarthritis |
Pubtator |
26972586, 27701424, 31486697, 37058031, 37788787 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Osteoglophonic dwarfism |
Osteoglophonic dwarfism |
Pubtator |
32124937 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteomyelitis |
Osteomyelitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteopenia |
Osteopenia |
BEFREE |
30212470 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteosarcoma |
Osteosarcoma |
Pubtator |
23133552, 25512523, 30657552, 34903122, 37211864 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Carcinoma |
Ovarian Carcinoma |
CGI_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Cysts |
Ovarian cysts |
Pubtator |
23810378 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Hyperstimulation Syndrome |
Ovarian hyperstimulation syndrome |
Pubtator |
24058690 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| ovarian neoplasm |
Ovarian neoplasm |
CGI_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Neoplasms |
Ovarian neoplasm |
Pubtator |
15028555, 17070899, 17900261, 20081105, 20487263, 20826764, 21559368, 22556379, 22585163, 23408974, 24176845, 28728166, 28888422, 29909423, 30084434, 31175269, 31340883, 31402794, 31957818, 32139151, 32373947, 35761259, 38184597 View all (8 more) |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pancreatic Neoplasms |
Pancreatic neoplasm |
Pubtator |
19050262, 20848249, 22170433, 23918833, 25846727, 31059194 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papilloma |
Papilloma |
Pubtator |
12865943 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paraparesis Tropical Spastic |
Tropical spastic paraparesis |
Pubtator |
37461070 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Parkinson disease |
Pubtator |
36595764 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Partial lipodystrophy |
Partial Lipodystrophy |
BEFREE |
23810379 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Ovary Syndrome |
Polycystic Ovary Syndrome |
BEFREE |
11440917, 18249389 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycythemia |
Polycythemia |
BEFREE |
19336760 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Portal Hypertension |
Portal Hypertension |
BEFREE |
20846792 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posterior embryotoxon |
Posterior embryotoxon |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Primary immune deficiency disorder |
immunodeficiency |
BEFREE |
31111319 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate cancer familial |
Prostate cancer |
Pubtator |
18829572 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
20407443, 28012929, 28614092, 28676490, 31428587 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Prostatic Neoplasms |
LHGDN |
12582030, 18372911 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Prostatic Neoplasms |
Prostatic neoplasm |
Pubtator |
15548330, 16061480, 16728406, 17823122, 17876045, 18372911, 18611860, 19725049, 20197460, 20368692, 20412587, 20606040, 20971737, 21080918, 21310825, 21430300, 23646189, 23798432, 23803661, 23812078, 24739041, 25201530, 27712587, 28981098, 29316844, 29341212, 30078221, 30132513, 30138363, 30295140, 31828111, 35387563, 35670774, 35908886, 37899170, 39780215, 9520419 View all (22 more) |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Prostatic Neoplasms |
Prostatic Neoplasms |
BEFREE |
20407443 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Prostatic Neoplasms |
Prostatic Neoplasms |
CTD_human_DG |
29610475, 29662167 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Psoriasis |
Psoriasis |
Pubtator |
24303025 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psychotic Disorders |
Psychotic disorders |
Pubtator |
25243493 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary Disease Chronic Obstructive |
Chronic obstructive pulmonary disease |
Pubtator |
28522564, 38178680 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal carcinoma |
Renal Carcinoma |
BEFREE |
28829506, 29288416 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Renal Cell Carcinoma |
Renal Carcinoma |
BEFREE |
25757764, 29288416 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Resistance to Insulin-Like Growth Factor I |
IGF-I RESISTANCE |
BEFREE |
27178332 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Respiratory Tract Infections |
Respiratory system infectious disease |
Pubtator |
27221134 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retinoblastoma |
Retinoblastoma |
BEFREE |
29016839, 29059158 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhinitis Allergic |
Rhinitis |
Pubtator |
37430199 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rieger eye malformation sequence |
Axenfeld anomaly |
BEFREE |
23810378, 23810379, 28632845 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rieger eye malformation sequence |
Axenfeld anomaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rieger syndrome |
Rieger syndrome |
BEFREE |
23810378, 23810379, 28632845 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rieger syndrome |
Rieger syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Salivary Gland Neoplasms |
Salivary gland neoplasms |
Pubtator |
26247885 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma |
Sarcoma |
Pubtator |
40462124 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma Ewing |
Sarcoma |
Pubtator |
17409416 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sarcoma Kaposi |
Sarcoma |
Pubtator |
11994280, 30170375 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe Combined Immunodeficiency |
Severe combined immunodeficiency disease |
BEFREE |
25133419 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe Combined Immunodeficiency |
Severe combined immunodeficiency |
Pubtator |
25133419, 37475052 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| SHORT syndrome |
SHORT Syndrome |
CLINGEN_DG |
11062485, 16847462, 23810378, 23810379, 23810382 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| SHORT syndrome |
SHORT Syndrome |
GENOMICS_ENGLAND_DG |
22351933, 23810378, 25488983 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| SHORT syndrome |
SHORT Syndrome |
CLINVAR_DG |
22351933, 23810378, 23810379, 23810382, 23980586, 24886349, 25133428, 25326637, 25488983, 26529633, 26633545, 26974159, 27766312, 28632845 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| SHORT syndrome |
SHORT Syndrome |
ORPHANET_DG |
23810378, 23810379, 23810382 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| SHORT syndrome |
SHORT Syndrome |
UNIPROT_DG |
23810378, 23810379, 23810382 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| SHORT syndrome |
Short syndrome |
Pubtator |
23810378, 23810379, 23810382, 24886349, 27076228, 28143957, 29476696, 32546215, 33129256, 33742773, 35110500, 39735640, 40420664, 40420722 |
Associate |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| SHORT syndrome |
SHORT Syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| SHORT syndrome |
SHORT Syndrome |
BEFREE |
23810382, 23980586, 24033310, 24886349, 28143957, 28302518, 28632845, 28934384, 29724723, 31583022 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| SHORT syndrome |
SHORT Syndrome |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Sinusitis |
Sinusitis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sjogren's Syndrome |
Sjogren syndrome |
Pubtator |
39819714 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Small cell carcinoma of lung |
Lung carcinoma |
BEFREE |
26988918 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Small Cell Lung Carcinoma |
Small cell lung carcinoma |
Pubtator |
12927054, 26988918, 28280736 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic paraplegia 11 autosomal recessive |
Spastic paraplegia |
Pubtator |
30081747 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic paraplegia 15 autosomal recessive |
Spastic paraplegia |
Pubtator |
30081747 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Speech Disorders |
Speech Disorders |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous cell carcinoma of esophagus |
Esophagus Neoplasm |
BEFREE |
25654238 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
23619167, 23730900, 25622907, 26614708, 26895469, 30556200, 30858165, 32823607, 33527763, 33811778, 37486536 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
34098850 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Carcinoma |
Stomach Carcinoma |
BEFREE |
30927924 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
19143835, 20848249, 25085584, 25590580, 25724188, 28460635, 30024601, 30106120, 33431761, 34504059, 34554347, 35670774 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stroke |
Stroke |
Pubtator |
32626985, 37561089 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sweet Syndrome |
Sweet syndrome |
Pubtator |
36355435 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Telangiectasia Hereditary Hemorrhagic |
Hereditary hemorrhagic telangiectasia |
Pubtator |
31450639, 35456471 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thrombocythemia Essential |
Essential thrombocythemia |
Pubtator |
23243278 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Cancer Papillary |
Papillary thyroid cancer |
Pubtator |
20564403, 26637226, 31696481, 31902939 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Diseases |
Thyroid disease |
Pubtator |
33129256 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thyroid Neoplasms |
Thyroid cancer |
Pubtator |
22928011, 28042956, 32737449, 34911834 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tongue Neoplasms |
Tongue cancer |
Pubtator |
33174521 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tooth Abnormalities |
Tooth abnormalities |
Pubtator |
28143957 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple Negative Breast Neoplasms |
BEFREE |
29527004 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Triple Negative Breast Neoplasms |
Triple negative breast cancer |
Pubtator |
30272286, 31527768, 31804921, 32672423, 33059724, 33092442, 36870308, 38202644, 39819723 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ulcerative Colitis |
Ulcerative colitis |
BEFREE |
29794741 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Undifferentiated carcinoma |
Carcinoma |
CTD_human_DG |
12606953 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
16984382, 21523767, 24004856, 25266796, 27350368, 31199921, 35246010, 38200039 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
29665744, 31401412 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urothelial Carcinoma |
Urothelial Carcinoma |
BEFREE |
21533174 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Usher Syndromes |
Usher syndrome |
Pubtator |
31781101 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Carcinosarcoma |
Endometrial Cancer |
CLINVAR_DG |
26619011 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uterine Cervical Neoplasms |
Uterine neoplasm |
Pubtator |
21663621, 27489350, 30075505, 30132534, 30283446, 31295843, 31983729, 34216514, 35296731, 36305754, 36906972, 38056236 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uveal melanoma |
Uveal melanoma |
Pubtator |
30008023 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vascular Diseases |
Vascular disease |
Pubtator |
37641480 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vascular Malformations |
Vascular malformation |
Pubtator |
34040190, 37641480 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vitiligo |
Vitiligo |
CTD_human_DG |
28836394 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Vitiligo |
Vitiligo |
Pubtator |
31941556 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Vitreoretinopathy Proliferative |
Vitreoretinopathy |
Pubtator |
15988409 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| X-linked agammaglobulinemia |
Agammaglobulinemia, X-Linked |
BEFREE |
25133419 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Young Syndrome |
Young syndrome |
Pubtator |
25488983 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |